Disorders of the Upper Extremity

Pertinent History

The history taking begins with asking the parents to describe the child’s problem. This description may bring into focus a more specific inquiry. The expanded description of the problem should include any functional limitations in age-appropriate activities and—elicited by gentle inquiry—the emotional status of the family and child in dealing with the deformity. An offer of occupational therapy to assist in activities of daily living (ADLs) and referral to support networks of families with similar children or to psychological counseling can be made at this juncture.

Questions about the pregnancy should elicit information about previous pregnancies and miscarriages (a clue to possible genetic conditions); illnesses and exposure to disease, chemicals, radiation, or drugs during the pregnancy; difficulties with the pregnancy, such as leakage of amniotic fluid or premature labor; and any antenatal testing such as amniocentesis or chorionic villus sampling and the reason for the testing. Information elicited about the delivery includes the infant’s gestational age, birth weight, Apgar scores, condition at delivery, and anything abnormal about the placenta or umbilical cord. (A single umbilical artery is abnormal and is one of the abnormalities in the VACTERL association [vertebral abnormalities, anal atresia, cardiac abnormalities, tracheoesophageal fistula and/or esophageal atresia, renal agenesis and dysplasia, and limb defects; see Box 12.4 ].)

BOX 12.4

System Anomalies in the VACTERL Association

• V ertebral

• A nal

• C ardiopulmonary

• T racheo E sophageal

• R enal

• L imb

Information to be obtained about the newborn period includes any extended hospital stay, diagnostic tests ortreatment required, bleeding problems or the need for blood transfusions, nutritional status, and attainment of appropriate developmental milestones.

The pertinent family history for a child with a limb abnormality includes questions about similar anomalies in the families of both parents.

Physical Examination

The physical examination is focused by the complaint but includes inspection of the entire child. The examiner should pay special attention to overall muscle tone while handling the child. A floppy infant may be morphologically normal but developmentally delayed. An appreciation of the appropriate reflexes according to the age of the child helps the examiner detect central nervous system dysfunction. Craniofacial features such as premature closure of sutures, abnormal head shape, facial asymmetry, crumpled or abnormal ears, and micrognathia suggest syndromes associated with limb abnormalities. As the observer becomes more familiar with the dysmorphic features, other facial features characteristic of syndromes will be recognized ( Fig. 12.9 ).

The neck and chest should be palpated for symmetry and integrity of the clavicle and ribs, the presence and bulk of the pectoralis and latissimus musculature, and symmetry of the breast tissue. The lower limbs are checked for stability of the hips, length, and symmetry, and any deformity is noted.

The spinal examination includes a check of alignment and range of motion (ROM) of the neck and palpation of the dorsal spinal elements. Any cutaneous manifestation of spinal dysraphism, such as a hairy patch or dimple, should be investigated ( Fig. 12.10 ). In the infant this is easily done utilizing a spinal ultrasound.

Examination of the limbs includes observation and documentation of all pertinent findings. The limbs can be inspected before the examiner evaluates the active and passive ROM of all joints. Any asymmetry in size should be noted. Motor examination includes observation of active ROM, palpation of muscle bulk, assessment of any musculotendinous contractures or spasticity, and in older children, evaluation of strength and measurement of strength grades. Any anomalies should be noted in anatomic descriptive terms and by classified or named conditions if the diagnosis is clear. Pejorative terms such as lobster claw or clubhand should be avoided in favor of simpler descriptive terms such as cleft, deviated, bowed, or angled .

Assessment of sensation may be inferred from the texture, temperature, presence of sweat and papillary ridges, and integration of the limb or digit into function. Discrete sensory testing is impossible in a young child but usually possible in older children. Asymmetry in the size of limbs or parts of limbs may be a clue to asymmetric neural innervation of the limb, vascular or neural malformation, or a possible underlying tumor.

In the case of anomalous formation of limb structures, the examination should focus on both the appearance and function of the limb. Observation of the child while using the limb in developmentally appropriate activities is important. A description of the functional limitations, such as an inability to touch the mouth with the hands or to bring the feet into a plantigrade position, should be included in the record to provide a clearer picture of the abnormality.

The examination of the child may need to be repeated to obtain a clear picture of the problem and the potential treatment. Establishing rapport with an older child is important in formulating a plan for treatment and may take more than one visit. Having several small, washable, nonlatex toys available for the child to play with is helpful for observing active ROM of the upper limbs and fine motor dexterity ( Fig. 12.11 ). White coats tend to provoke conditioned negative behavior and thus make examination of the child more difficult.

Examining a young child is very different from examining an older child or adult. Tricks of the trade include using toys, decoys, diversions, and patience.

The Parent

Especially in children with a congenital deformity, the attitude of the parents must be one of cooperation. Parents need to work through a bereavement process by mourning loss of the “perfect baby” that they had anticipated before birth. The time required for family members to experience this bereavement is variable. The grief process may lead to unrealistic expectations of the surgical procedure and the surgeon. The parent and the surgeon must be patient and allow grieving to take its course. This is one reason why all but the most trivial reconstructive surgical procedures on a child’s hand are best deferred until after the first 6 months of life. Bradbury lists three stages of the grieving process.

The Child’s Maturity

Two considerations related to the child’s maturity level are important: cooperation and self-awareness.

Children’s capacity to participate in a helpful way in their care varies with age. We have found Bradbury’s “cooperation milestones” to be clinically useful ( Table 12.1 ). They help the surgeon make reasonable decisions regarding the timing of treatment.

Another consideration is the child’s self-awareness, or when the child with a deformity learns “I’m different.” Although the child may notice a difference in the deformed hand by 3 years of age or earlier, self-consciousness rarely develops before approximately 5 years of age, when the child begins to interact with people outside the family. The deformity poses great emotional stress for the child at two important times. The first is between 5 and 7 years and the second is in early adolescence. Adolescent boys, more so than girls, seem to be particularly prone to acute self-consciousness, perhaps because of their comparative inability to talk about their deformity with their friends.

The Surgeon

It is important for surgeons treating these children to have appropriate interest, training, and experience. Dealing with the child, the family, and the tediousness of the operations and dressings demands a special commitment of time and patience to achieve optimal results. The first surgeon who operates on the child’s hand has the best chance of achieving a good-quality result. Even small gains in function may be important for use of the hand. The hand has many emotional and physical differences from the lower extremity. Although the hand does not bear weight, it needs stability, power, and at the same time, precision, flexible movement, and high-quality sensation. The hand also has unique importance cosmetically and is never covered by clothing. Because of these considerations, pediatric hand surgery is usually best done by orthopaedic or plastic surgeons with a special interest in children’s hand deformities. Recently, special training in pediatric hand surgery has become available at some centers. Performance of hand operations is never an emergency (with the rare exception of neonatal compartment syndrome or a congenital band causing vascular compromise). As a rule, within reason, later tends to be better.

The Hand

Two unique characteristics of a child’s hand direct the appropriate timing of surgical intervention: growth of the hand and the risk for a disproportionately thick scar created in infants’ skin at the site of hand incisions.

The hand increases in size 10-fold between the time that it is fully formed, at 8 weeks of gestation, and birth. After birth, the hand doubles in size nearly twice before reaching adult size. The first doubling occurs early in childhood, at approximately 2 to 3 years, and delaying surgical correction until 2 to 3 years of age allows precise execution of a surgical plan ( Table 12.2 ).

Fetal skin has the remarkable characteristic of healing without scarring, a property that only bone maintains into adult life. Soon after birth, however, the infant skin may make an unexpectedly robust, hypertrophic scar at the site of surgical incisions. This is in contrast to the more favorable nature of deep scarring around the tendons and joints of older children. This superficial hypertrophy of the scar in the skin incision is particularly a problem for the hand surgeon because the hand’s great mobility demands absence of scar in areas of the skin that change length with hand motion. Areas that are especially important are the palmar surface of the digits and the webs ( Fig. 12.12 ). Inaccurate positioning of incisions, especially in these areas, is a common cause of “web creep” after syndactyly. The poor results in children from “tiny Z-plasties” or any small flap are usually related to inappropriate scar placement in the skin of a young child.

The Anesthesiologist

Finally, because of the elective nature of the surgery and the nonfatal aspect of these conditions, an unexpected anesthetic catastrophe is especially shocking when it occurs during reconstruction of a child’s hand. An anesthesiologist trained in the care of children and whose practice is mostly pediatrics is optimal for hand reconstruction because the surgical procedure itself carries almost no risk for death. The operating room in which the procedure is done should be equipped with appropriate instruments for children. Most anesthesiologists agree that non–life- or limb-threatening conditions requiring operations under general anesthesia are best delayed until after 6 months of age—and even later in children born prematurely, whose lungs may be less mature than would be expected by chronologic age. This is especially true as recently there has been controversy regarding the potential effects of early anesthesia on the developing brain.

Suggested Surgical Milestones

We have developed certain guidelines for scheduling surgery on the hand in children. These are “soft” guidelines, and it must be remembered that timing also varies with the experience of the surgeon and anesthesiologist and the emotional readiness of the parent. In addition, children with hand anomalies often have serious visceral and systemic problems that take precedence over treatment of the hand anomalies (e.g., cardiac, renal, hematologic, spinal, and tracheoesophageal problems). Once these problems are attended to, accurate execution of the surgical procedure on the hand must be balanced against giving the child the best opportunity to begin using the surgically altered hand. Finally, to some degree, pressure from parents may speed up or delay the time of surgery. Acknowledging all of this, Box 12.1 shows a few guidelines that we have found useful.

BOX 12.1

Surgical Timing Guidelines Followed by the Hand Service of the Texas Scottish Rite Hospital

Conditions That Should Be Corrected in the First Few Days of Life (Under Local Anesthesia)

• Floating polydactyly: The floating digit is usually ulnar (postaxial) and dangling from a narrow skin and vascular tether. Ligation is well accepted by the mother, who has recently seen the umbilical cord desiccate, just as the polydactylous digit will. If ligation–amputation is not done, as the child gets older, the family or patient may develop a morbid attachment to the useless part, which may complicate the best plans for reconstruction.

• Strangulating amniotic bands: Bands causing obvious vascular compromise that need to be released to maintain viability (or more often amputation of a nonviable part) are rare. Z-plasty correction of the clefts formed by the band in these small hands should wait until the child is larger.

Conditions That Should Be Corrected After 6 Months but Before 1 Year of Age

• Border syndactyly: Especially the thumb–index web and the ring–small finger web, which cause serious loss of function of the thumb and tethering of the ring or index finger.

• Complex osseous syndactylies: Especially those with transversely positioned bones, which progressively deform the hand as it grows. Some cases of central polydactyly may be optimally treated now.

• Apert polysyndactyly: Because of the number of operative procedures required in these children, we like to start early and often perform them bilaterally with two teams of surgeons.

• Macrodactyly needing amputation: Though rare, massive macrodactyly may be present at such an early age that amputation is the only reasonable course of action.

• Broad-based polydactyly: Cases that could not be treated safely before 6 months of age with ligation under local anesthesia.

Conditions in Which Surgery Can Wait Until the Second Year of Life or Later

• Thumb duplications: Here, the skill of the surgeon may alter the timing of reconstruction of a duplicated thumb. Preaxial thumb polydactyly is unique in that reconstruction is almost never a simple amputation, and careful consideration of ligament reconstruction is critical for long-term joint stability and alignment.

• Simple or cutaneous syndactyly involving the long and ring fingers or the long and index fingers: By 12–18 months the hand is much larger than an infant’s hand, and precise construction of flaps and skin grafts leads to a more predictable result. Even greater delay may be appropriate in a child with an understanding parent.

• Pollicization: We prefer the age of 18–24 months to allow technical precision in the execution of this multistep, exacting procedure.

• Angular deformities requiring osteotomy and fixation: The larger size of the bone allows more accurate and effective use of Kirschner wires.

• Thumb–index web reconstructions: Thumb–index web reconstruction affords the most important opportunity to improve hand function. We do these operations earlier if bony connections are present in the web and do them later when only cutaneous restraint is present.

• Hypoplastic thumbs, hands with ulnar dysplasia, and complex polysyndactyly are frequently treated at this time.

Wound Closure

We prefer to use fine absorbable sutures (6-0 plain gut) dyed blue with the marking pencil for easy visualization (see Fig. 12.13 ). This obviates later suture removal, saves time, and reduces anxiety. These fine absorbable sutures are weak and may be supplemented with wound closure strips cut short. The wound must be protected with the rigid dressing described later.

Primary Dressing

The primary dressing goes directly on the wound. We prefer a single layer of fine mesh gauze treated with petroleum jelly and antibiotic (see Fig. 12.14 ) . Use of petroleum jelly-treated gauze minimizes sticking of the dressing to the wound, and if a single layer is used, no maceration of skin will occur because blood from the wound can easily pass into the dressing. This important drainage of blood into the dressing is facilitated by the application of a saline-soaked dressing sponge of appropriate size (see Fig. 12.15 ) . The well-moistened gauze also contours well to the complex shape of the hand and digits.

This primary dressing is altered when a skin graft is present by applying the Xeroform in a single sheet combined with dry gauze just covering the wound. This dressing is then secured with paper tape (Steri-Strips) and, once secured, is moistened with saline. We call this the “Steri-Strip stent” and have found it most useful for securing the skin graft, as is required, for example, in reconstruction of syndactyly (see Fig. 12.16 ).

Gentle Compression Components

This layer holds the primary dressing in place and is carefully applied with just enough compression to accomplish this aim, but not so much that the circulation is restricted. Applying this layer requires some practice and is critical to success. Illustrating the technique of applying just the correct amount of compression is difficult.

The first layer of the compression components consists of fluffed gauze formed from single-dressing gauze opened up and shaped into cones. These cones are gently placed between the fingers to prevent maceration, but they are not forced into the webs, which would restrict the circulation (see Fig. 12.17 ) . The fluffs are secured with the appropriate-size roller gauze (e.g., Conform, Kling) in 2- or 3-inch widths (see Fig. 12.18 ). Although gentle compression is required to make this first compression layer fit the hand well, all tightness around the forearm or wrist and circumferential dressings around a finger must be avoided. After proper application of this layer, the hand should be secured in the proper position of slight wrist extension and thumb abduction. (The exception is after flexor tendon reconstruction, in which case some wrist flexion is required to protect the tendon repair.)

Padding and Skin Protection

Next, a layer of cotton cast padding (Webril) is applied to protect the skin and bony prominence and make removal of the rigid shell easier (see Fig. 12.19 ). Plaster or fiberglass sticks to gauze dressing and is more difficult and time-consuming to remove later. Orthopaedic felt applied to the upper portions helps protect the skin from the very abrasive fiberglass (see Fig. 12.20 ) .

The tourniquet must now be deflated, before the next stage, to verify unobstructed and unequivocal digital circulation. If the circulation is in doubt, it must be restored, which may occasionally require removal of the dressing. The hand should now be kept elevated because during the next few minutes, during posttourniquet hyperemia, arm volume will be equilibrating before application of the rigid outer shell.

Rigid Outer Shell

This important layer has two functions. The first is to hold the primary dressing in the position applied, and the second is to function as armor plating to protect the wound. Plaster-of-Paris casts have worked well in the past and have the advantage that they can be molded accurately. However, fiberglass is lighter and more durable and simplifies cleanup. We have found that a new, softer, semirigid fiberglass (Softcast) has the advantage that it can be removed weeks later by simply unwrapping it. Softcast obviates use of a noisy cast saw, which is especially frightening to children and parents when used around the hand (see Fig. 12.20 ).

Next, in small children the digits are first well padded and covered with cast padding completely enclosed by a fiberglass mitten. Some active digital movement by the child under the fiberglass is possible (see Fig. 12.21 ). A 2-inch sling of stockinette can be fashioned and put around the child’s chest or neck as indicated (see Fig. 12.22 ). It should be removed for sleep. Alternatively, a larger sock can be used to cover the cast and can be safety-pinned to the shirt for support.

Activities of Daily Living

Children with limb deficiencies develop remarkable ways to substitute for missing parts. ADLs can include bathing, dressing, eating, and perineal care, as well as school activities such as writing, cutting, computer use, or even carrying books or a lunch tray ( Fig. 12.24 ). ADLs can also include extracurricular activities such as sports, music, art, and dance. These extracurricular activities can be a very important part of promoting self-esteem and self-confidence. Guiding each child toward independence—or allowing participation in an activity through the use of assistive devices or alternative methods and techniques—is of utmost importance ( Fig. 12.25 ).

When determining which piece of equipment or alternative technique is most appropriate for each child, it is imperative that the therapist first look at available function by assessing ROM, strength, sensation, and dexterity. An example of this therapeutic approach can be seen in Fig. 12.26A and B with a small child who has limited grip strength and is unable to manipulate heavy eating utensils and may be better off using a plastic spoon/fork or a wraparound utensil (see Fig. 12.26 ) that requires no grip strength at all. In addition, to promote participation in a specific activity, it is necessary for the child to be interested in the task and feel a sense of accomplishment once it is attempted or completed. Coaching the parents to teach and encourage their child will reinforce the child’s functional independence, which in turn will enhance self-esteem and confidence. It is also important to remind parents and other caregivers that a child with a congenital hand difference may complete activities very differently from another child or adult with a five-digit hand, but how it looks matters little if the task can be attempted or accomplished ( Fig. 12.27A ). Kids can also learn from other peers or older teens/adults who have the same hand difference (see Fig. 12.27B ). This opportunity can be provided at hand camps and/or hand support groups in their local area.

Splinting

Proper splinting of the pediatric hand and upper extremity is an acquired skill that requires a working knowledge of anatomy, an understanding of the condition being treated, attention to detail, considerable practice, and an unusual degree of patience. Splinting in pediatrics also requires the ability to work quickly, as well as to develop an effective method for holding a desired hand position as the splint material cools. Distraction is an important tool in pediatric splint making ( Fig. 12.28 ). Parents can be coached on how to help distract the child during the fabrication process to prevent unwanted movement and crying.

Therapists splint for a variety of reasons, including: to increase function, to protect or rest a joint, to increase ROM, to decrease pain, and to stabilize. It is important for the therapist to understand why a splint is needed and what function it will serve before the fabrication process begins. A comprehensive physician’s note or, at times, a verbal communication with the surgeon, coupled with an in-depth conversation with the child and parent, will help determine the expected function of the splint. For splints used in the postoperative period, an operative note should be available to the therapist, and it is preferable that the surgeon discuss in detail his or her objectives and concerns directly with the therapist who will fabricate the splint. Several manuals of splinting detail the fabrication of standard splints, to which the reader is referred.

Securing Splints

When continuous immobilization is required, the splint may be secured with strapping material or Coban (3M, St. Paul, MN) over the straps at the palm, wrist, and elbow levels to secure the correct splint position. If the child removes the splint when unsupervised, additional measures may be required to ensure consistent wearing patterns. Such measures may include placing a sock over the top of the splint and securing it with a safety pin at the shoulder ( Fig. 12.29 ) or using a lace-up method. The wrist strap may also be split along most of its length so that one tail can go around the wrist and the other across the hand and through the thumb web space to secure the hand in the splint ( Fig. 12.30A and B ) .

Children Not Suitable for Splinting

Children 4 months to 2 years of age are historically harder to splint. At this age, children have a short attention span and lack the ability to reason, but they have developed significant function in their hands. Therefore, use of splinting at this age is often difficult or impossible. If, however, a splint is required and a circumferential cast is not preferable, special precautions should be taken. Small splints at this age can become choking hazards, so detailed explanations and precautions must be given to caregivers. A splint that is fabricated larger than actually needed and that crosses several joints may be more reliably kept in place and is less likely to become a choking hazard ( Fig. 12.31 ). Also, being able to secure the splint as indicated previously can help prevent unwanted removal. Stretching can often maintain or increase ROM until a child is old enough to understand why a splint is necessary. This may not occur until school age (5 to 6 years).

Static Splinting

Static splints are molded directly on the hand or limb to maintain one or more joints in a desired position. They are used to support healing joints and tissues after injury or surgery. These splints can also be used to maintain or improve ROM. Static splints are generally comfortable, well tolerated, and relatively easy to fabricate. Because a static splint does not have any moving parts, frequent remolding is often required because ROM and the degree of edema change. In small children, simple static splints are especially useful and often tolerated better by the child, as well as the caregiver ( Fig. 12.32A and B ).

Dynamic Splinting

This form of splinting is especially effective in adult patients but is rarely used in children. Dynamic splints consist of a static splint as the base with the addition of self-adjusting resilient components such as rubber bands, springs, or an elastic line to create a mobilizing force, which provides passive ROM. This feature can be used to increase passive ROM of a stiff joint, replace absent muscle function, or protect injured or repaired structures.

It is important to set the tension of the components carefully to achieve the desired ROM while maintaining proper healing. To be most effective, frequent readjustments are required because the resistance of tissue can fluctuate. Tension pulled too tightly can overstretch joints and tendons and lead to inflammation of tissues. Tension that is too loose is ineffective.

Splint forces can be difficult for some patients to control, which makes tolerance problematic and in some cases impossible. It is also imperative to take special precautions in patients with vascular insufficiency, thin tissue, an insensate hand, or edema.

Elastic components tend to become fatigued over time, thus decreasing their effectiveness on joints. This makes routine splint adjustments a priority to ensure correct fit and continued function of the splint. It is also important to assess whether the patient has adequate strength in the opposing direction to overcome the resistance and move through the desired ROM to obtain proper tissue healing, maintain ROM, and prevent adhesions. Dynamic splints are most useful in resolving contractures with a “soft” end-feel. Careful patient selection is important for effective use of dynamic splints, especially with pediatric patients. Extensive education and explanation are required for successful outcomes and compliance, and small children are rarely suitable candidates for wearing these complicated splints ( Fig. 12.33 ).

Serial Casting or Serial Static Splinting

Serial casting is used most often to resolve contractures with a “hard” end-feel by statically positioning a joint near the end of its elastic range and maintaining that position for a time. Because constant stretch is achieved without any additional stress or force added until the cast is changed, this type of splinting is well tolerated. Casting and serial static splinting provide low-load, end-range positioning, which facilitates relaxation and lengthening of tissues. Pressure is distributed over a large surface area, which aids in comfort and vascular flow. Because it is difficult for the patient to remove the cast, compliance is typically very good. The splint or cast must be remolded or recasted frequently to accommodate increases in ROM. Clamshell splinting can be a good alternative if the child is not a good candidate for serial casting or lives far away and is unable to make weekly appointments for cast changes ( Fig. 12.34A and B ).

Custom Splints

Custom splints are fabricated by hand and are used for patients who require a special fit. These splints are frequently required for the small hands of children with congenital deformity. Custom splints can provide more support than prefabricated splints do and allow therapists to customize the fit to the individual patient. Custom splints provide exact joint alignment for improved healing and are used frequently following surgical repair ( Fig. 12.35A and B ) . Custom splints require skill, time, and a working knowledge of the materials used. Custom splints are more expensive than prefabricated splints because the cost of materials and labor needs to be factored into the cost of the splint. With each fabricated splint, it is important that the child and caregiver have a good understanding of the wear and care of the splint and the purpose behind its use. Allowing color choices for material and straps adds ownership, creates participation, and makes the process fun! Kids leave with a splint they helped design, which increases adherence to wear schedules and proper care of the splint ( Fig. 12.36A to C ) .

Prefabricated Splints

Prefabricated splints are made by a manufacturer, purchased through a catalog, and sit on the shelf ready for use. This allows quick fitting time, a material that can easily be washed, and in some cases, increased comfort. The ability to place the limb in a precise position is compromised with a prefabricated splint; however, most prefabricated splints have some room for adjustment and limited customization ( Fig. 12.37 ).

Combination Custom/Prefabricated Splints

Occasionally it is preferable to fabricate a combination splint that allows the benefits of both splints. A combination splint can use a custom splint to hold the desired position (usually hand based), with a prefabricated splint placed over it for comfort and added protection ( Fig. 12.38 ). Or a prefabricated splint can be used to hold joints in place while fabricating a custom splint over the prefab splint ( Fig. 12.39A to C ) . This can be used with children who have increased tone and are difficult to splint across several joints at the same time. It is often quicker to fabricate a portion of a splint rather than an entire splint, and a combination splint can also be more comfortable, which increases compliance.

Specific Splints for Specific Joints

Fingers

• Splinting the fingers of children can be challenging. An injured finger can sometimes be splinted effectively by attaching it to an adjacent finger with a buddy strap ( Fig. 12.40A and B ) . A buddy strap also encourages ROM because the injured finger is attached to a stronger finger. A variety of types are available, although softer ones tend to be tolerated better by children. Tape or Coban can also be used for this purpose. Care must be taken to ensure that application of the strap or tape does not affect the circulation.

  

• Silipos is a unique material that is very effective for scar management and available in a variety of sizes. It is a stretchy tube lined with a gel pad that is impregnated with mineral oil. The finger tubes come with a closed tip that provides a smooth contour for fingertip amputations. These tubes provide compression and allow full ROM ( Fig. 12.41 ).

  

• The Finger-Hugger is used for proximal interphalangeal (PIP) and distal interphalangeal (DIP) joint extension ( Fig. 12.42A and B ). It comes with two inserts that slip into a pocket. One is more flexible to encourage extension but allows some motion. The second is a static aluminum insert with adjustable spring tension that provides gentle compression but is comfortable to wear because it better distributes the force across the dorsal aspect of the finger.

  

• profile and has a light spring force, which allows longer wearing times and greater tolerance ( Fig. 12.43A ). The LMB flexion splint (see Fig. 12.43B and C ) may be used for swan-neck deformities and extension tightness.

  

• Oval-8 ring splints may be used for swan-neck deformities. They are low profile, which makes them ideal if multiple splints are required on adjacent fingers ( Fig. 12.44A and B ). They can also allow the patient to see the potential benefit of surgical tenodesis or capsulodesis for more permanent correction of the deformity.

  

Thumbs

• A Joe Cool splint ( Fig. 12.45A and B ) is used to position the thumb and is often used on children with cerebral palsy. It applies pressure on the index–thumb web space and places the thumb in a more functional position. Care must be taken to avoid hyperextension of the metacarpophalangeal (MCP) joint during wear.

  

• A prefabricated short basic opponens (SBO) splint ( Fig. 12.46A and B ) can be used for moderate tone in the thumb or after surgery when rigid splinting is not required. Support of the thumb after surgery or trauma can decrease pain and increase function by providing support to soft tissue during periods of stress on the thumb in the performance of ADLs.

  

Wrist

The most common wrist splints used in pediatrics are the wrist cock-up splint, the dorsal-blocking splint, and the long basic opponens splint.

• The wrist cock-up splint ( Fig. 12.47 ) is used to block motion at the wrist. Care needs to be taken to ensure that the wrist is not in an ulnar-deviated position, especially in children with abnormal tone.

  

• The dorsal-blocking splint ( Fig. 12.48 ) is used for flexor tendon injury or other types of injury to the flexor side of the forearm. Because the splint is placed on the dorsal side of the hand, a drapable material is most desirable.

  

• The long basic opponens splint or thumb spica splint ( Fig. 12.49A and B ) is used after surgery on the thumb or after trauma. The thumb can sometimes be supported with a hand-based opponens splint if the wrist is uninjured and movement at the wrist level would not affect the healing tissues in the thumb.

  

Forearm

The tone and positioning (TAP) splint is a pronation/supination splint that is effective for lack of range caused by weakness or deficient tone. The forearm strap can be changed if a deficit in both directions is present, thus avoiding the need for two separate splints. When pronation is needed for functional tasks, such as using a keyboard or holding/carrying objects that require two hands, the forearm wrap is started over the ulnar border of the forearm ( Fig. 12.50A and B ).

When a child is carrying objects that require a palm up position, such as a lunch tray at school, the hand needs to be in supination. The strap then needs only to be rewrapped over the radial border of the forearm. Because the neoprene is stretchable, the child can move against the splint. When the child relaxes, the splint returns the forearm to the desired position.

Elbow

Splinting the elbow is a challenge in pediatrics because all elbow splints restrict motion. When moderate support is needed for soft tissue, an elbow sleeve ( Fig. 12.51 ) is well tolerated by children. However, when gains need to be made in flexion, a static elbow flexionsplint ( Fig. 12.52 ) may result in better compliance than a heavier hinged splint. Elbow extension is usually best addressed with a static extension splint worn at night ( Fig. 12.53A and B). When more aggressive elbow extension is needed serial casting works nicely over time to extend the elbow. The clinician must pick compliant patients and families, provide good cast instruction, and follow up weekly to change cast and monitor improvements ( Fig. 12.54A to C ).

Scar Management

Whenever an incision is made in the skin, a scar forms as a normal part of wound healing. A scar may require up to 1 to 2 years to mature. Frequently, while the scar is maturing, tendons can become adherent to the scar. Such adhesions can prevent normal tendon gliding and result in decreased ROM. Through proper scar management, adhesions can be minimized. Once sutures are removed and the eschar has separated, scar management can begin safely. This can include scar massage and the use of a scar pad.

Scar massage is performed 4 to 6 times per day with a lubricating substance such as petroleum jelly or cocoa butter. The massage technique consists of rotating two fingers or the thumb over the scar in a clockwise and counterclockwise direction and exerting as much pressure as the patient can comfortably tolerate.

A scar pad is often used to help soften, flatten, and decrease redness in the scar, as well as decrease hypersensitivity. It performs best when held in place with a compressive wrap such as Coban to apply pressure on the scar for continued remodeling ( Fig. 12.55A to C ).

Elastomer inserts may also be used during splint application for compression of scar tissue through the application of firm pressure on the maturing scar. Many products are available, and the choice depends on the condition of the healing tissue.

Rolyan Elastomer and Otoform (hydroxyl-polydimethyl siloxane with fillers, auxiliaries; not vulcanized) are in a putty form that can be spread thin or formed to fit areas requiring bulk, such as the web areas ( Fig. 12.56A to F ) . Silicone or gel sheets are best used when a smooth, flat surface of compression is needed. These sheets are available in a variety of weights (thicknesses) and densities to achieve the desired result as appropriate for the healing tissue. Scar pads that are not used under a splint require some method of attachment to ensure uniform compression.

Coban, Tubigrip, and Medigrip are some effective materials for holding scar conformers in the desired position. The therapist needs to determine the best material to use for each individual patient to ensure the best possible outcome. Attaching a scar conformer to the finger is a challenge to therapists who treat children because their fingers are small and it is difficult to keep wraps in place. For this reason, the conformer may have to be attached with the use of a splint ( Fig. 12.57 ).

Prevalence and Epidemiology

RLD has been estimated in the literature to occur in 1 in 50,000 to 1 in 100,000 live births. The incidence of all radial ray–deficient limbs, including patients with hypoplastic thumbs alone, is approximately 1 in 30,000. The prevalence has been reported to be slightly higher in boys at 3:2. At our institution we have treated more than 400 patients with radial dysplasia deficiencies and have noted an equal sex ratio.

Etiology

Radial deficiencies can be either isolated or associated with other anomalies, often as part of a recognized malformation syndrome. The molecular basis of isolated radial ray deficiency is still unknown. In some of the syndromic associations the genetic lesion has been identified. Patients with Holt-Oram syndrome have a mutation on chromosome 12 at the location of the TXB5 gene. The etiology of FA, which may be associated with radial ray deficiency, is also known. It is an autosomal recessive disease. Eleven FANC genes are known. An individual must have two abnormal FANC genes to have FA. They may be homozygous for one FANC mutation or heterozygous for two FANC gene mutations. The cause of TAR syndrome has not yet been identified but can be passed in an autosomal recessive fashion. Both environmental factors and drugs have been associated with RLD. Maternal exposure to antiepileptic drugs, particularly valproic acid, has been associated with radial deficiency. Radial aplasia has been observed with increased frequency in fetal alcohol syndrome. Other drugs associated with radial deficiency include thalidomide, phenobarbital, and aminopterin.

There seems to be a critical time in embryogenesis in which the risk for radial ray defects is increased. In humans, the upper limb forms between the fourth and eighth postovulatory weeks. The insult, whether environmental or genetic, seems likely to occur in the critical time between weeks 4 and 5 of embryonic development.

Clinical Features

RLD has a wide range of phenotypes. In some cases, it may be a subtle finding noticed incidentally on radiography as a mildly hypoplastic thumb and missing or fused carpal bones. The most severe manifestations are characterized by total absence of the radius and deficiency of the proximal part of the upper limb, with a shortened humeral segment and hypoplastic glenoid giving the limb a phocomelic appearance ( Fig. 12.72 ). The defect may be unilateral or bilateral. Bilateral defects are more likely than unilateral defects to have a syndromic association.

The signs and symptoms of RLD are distinctly different from those of ulnar longitudinal deficiency (ULD), as discussed in the following sections ( Table 12.4 ).

Clinical Evaluation

It is essential that any child with a radial deficiency of any degree be evaluated with a complete history and physical examination. At our institution, one fourth of all patients with a hypoplastic thumb or radial clubhand had a syndromic association ( Table 12.5 ).

Classification

Earlier classifications of thumb hypoplasia (Blauth) and radial clubhand (Bayne and Klug) have been modified by Manske into the current classification of radial deficiency ( Figs. 12.73 and 12.74 ; Table 12.6 ).

Anatomic and Surgical Pathology

From a surgical point of view, the most important anatomic differences occur at the level of the wrist.

The radial ray is defined as the radius, scaphoid, trapezium, thumb, and associated soft tissue structures. All or part of these structures can be missing, depending on severity, and the defect can be longitudinal or intercalary.

A fibrous anlage is frequently present in cases in which all or part of the radius is missing (types II to IV). This is an important deforming force and needs to be excised as part of corrective surgery.

Because of the deficiency of radial structures, the median nerve is often one of the most radial structures and is very superficial at the level of the wrist. Care must be exercised by the surgeon to not damage it in the approach or mistake it for the anlage.

Other muscles in the upper limb may be absent, abnormal, or accessory ( Fig. 12.75 ). The radial artery is absent in 86.5% of cases. The ulnar artery is usually present and normal. A significant number of patients have persistence of the embryologic median artery of the upper limb. In some cases the anterior interosseous artery is larger. A brachiocarpalis muscle, acting as a deforming force at both the elbow and wrist joints, is consistently found in patients with TAR syndrome.

From a functional point of view, it must be remembered that 80% of the load-bearing part of the wrist joint is missing when the distal end of the radius is absent. For this reason, radial clubhand does not resemble clubfoot in the lower limb. Corrective surgery can realign the limb, but it cannot replace this anatomic and biomechanical defect. Recurrence of the deformity after corrective surgery is common. This contributes to the already deficient growth potential of the ulna. The ulna tends to curve in association with the missing radius. In untreated cases the ulna grows to approximately 60% of the length expected.

In cases of complete radial aplasia, the hand is fixed in pronation, and the patient substitutes wrist flexion for supination.

The elbow joint may be normal or abnormal. An ulnohumeral synostosis may be present, which is important to note because procedures that stiffen the wrist joint or cause the hand to deviate away from the face have no place in this situation.

It is also important to note the condition of the fingers. The index and sometimes middle finger may be stiff and lacking in function because of aberrant flexor and extensor structures. This is particularly important to note in cases in which pollicization may be considered.

Imaging

Plain radiographs are all that is required to diagnose and classify deficiency involving the radius itself. The forearm deformity can be classified in infancy. In cases of subtle radial dysplasia involving just the carpal bones or the thumb, radiographs obtained once the carpal bones have ossified will be more accurate. If microvascular surgical treatment is planned, specialized studies of the local vasculature may be necessary, especially in patients who previously have undergone surgery.

Plain radiographs can be very useful as tools for monitoring the clinical progress of radial dysplasia, particularly after surgery. We recommend that a standardized view (posteroanterior [PA], neutral rotation) be used to allow adequate comparison ( Fig. 12.76 ).

Treatment

General Principles

Before embarking on any operative treatment, it is important to remember that it is easy to make these children worse in trying to make them better.

Even results that look good in the postoperative period may not be satisfactory in the longer term because of either recurrence of the deformity or arrest of distal ulnar growth brought on by the original procedure. All reports detailing various surgical approaches are plagued by small numbers, absence of long-term follow-up, and lack of standardized assessments of functional impairment and activity performance. ^,

It has been said that “The story of the surgical treatment of radial ray defect … consists of descriptions of many operations and reports of successful short term results. … The graveyard of discarded procedures—documented by book after book and article after article …”

The general principles of treatment can be listed as follows:

• 1.

  Stretching and splinting should be started early in infancy to maintain soft tissue length.

• 2.

  Surgical correction needs to address the tight structures, most notably the fibrous anlage on the radial side of the wrist.

• 3.

  The limb, especially the forearm, is destined to be short. At best, the affected ulna will grow to only 60% of the length expected. Eighty percent of the growth of the forearm comes from the distal end of the ulna. Aggressive surgery in early childhood that prompts distal ulnar growth arrest will result in a very short forearm. Care must be taken to protect the distal ulnar physis and its blood supply.

• 4.

  Before surgery attempting to improve the appearance of the forearm is undertaken, the potential to disturb the function of the limb must be considered carefully, especially with bilateral cases. In some cases, the limb is so tight and so deficient that even if an elbow is present, operative intervention offers no improvement in function or appearance.

Recommendations for treatment, based on age, for infants and young children are as follows:

• 0 to 6 Months : Splinting is effective and well tolerated at this age. Splints should ideally be above the elbow for increased control because the limb is so small. Serial casting can also be used. Both must be changed frequently.

• 6 to 18 Months : After 6 months, splinting is less well tolerated. A stretching program for the parents to follow is then instituted, combined with night splinting if possible.

• 2 to 3 Years : Splinting and stretching are not as effective by this age. In addition, the limb has now almost doubled in size since birth, which makes any subsequent operative treatment easier.

In cases requiring operative intervention, our current treatment of the forearm involves the use of a bilobed flap ( Fig. 12.77 ), soft tissue release, ulnar osteotomy, and temporary longitudinal wiring of the carpus to the distal end of the ulna in the corrected position. The soft tissue release must include resection of the anlage, if present. The longitudinal wire does not seem to cause arrest of distal ulnar growth. Some recurrence of deformity over time in all but the mildest cases is to be expected.

Thumb hypoplasia is managed according to the severity of the level of involvement. Blauth type I thumbs may require first web space lengthening or even no surgical treatment. Addition of opponensplasty and ulnar collateral ligament reconstruction to the web space lengthening may be considered for type II thumbs, and type IIIA thumbs may require tendon transfers in addition to the aforementioned procedures.

Other Procedures

Centralization

Centralization aims to improve the position of the carpus on the forearm and may increase the overall length of the limb. The first centralization procedure was performed by Sayre in 1894. Since then, many variations have been developed to achieve the best long-term result with the fewest complications. Problems with centralization have included recurrence, growth arrest, and loss of motion at the wrist joint ( Fig. 12.78 ).

Centralization improves the appearance at least temporarily but has not been shown to improve function. In longer-term follow-up studies, patients tend to have either a recurrent deformity with a more flexible wrist or reasonable maintenance of alignment with a stiff wrist. In patients with good elbow function, postcentralization recurrent deformity may be addressed by ulnocarpal epiphyseal arthrodesis to stabilize the carpus.

Radialization

Radialization was developed by Buck-Gramcko in the 1980s as another modification of centralization in an attempt to reduce the risk for recurrence. Today, it is usually combined with preoperative soft tissue distraction. The carpus is then fixed on top of the distal end of the ulna with a longitudinal wire. Radial-sided tendons are transferred ulnarly. An Ilizarov device may be added to lengthen the ulna. Complications have included overcorrection and recurrence.

Before undertaking any centralization or radialization procedure it must be remembered that when these children become adults limitations do not seem to be related to wrist position.

Ilizarov Correction

Ilizarov correction can be used to lengthen the ulna through osteotomies in conjunction with realignment procedures. It can also be performed at the time of wrist arthrodesis. Radial lengthening for type II and III radial dysplasia has also been described, as has gradual soft tissue distraction in preparation for centralization. ^, The patient’s and family’s enthusiasm for a longer arm must be tempered by the surgeon. The need for possible multiple lengthenings should be discussed. Problems associated with this procedure include progressive contracture and nerve injury. Neurologic changes during lengthening are very difficult to monitor in young children. In general, lengthening procedures in these patients are associated with high risk and low benefit.

Vascularized Epiphyseal Transfer

This technique, developed by Vilkki in the 1990s, aims to replace the missing radial strut with tissue that has some growth potential. In this operation, a metatarsophalangeal (MTP) joint unit is transferred from the foot to the radial side of the wrist via microsurgical techniques.

Although some good short-term results have been reported, complications have included arrest of the growing epiphysis and recurrence of deformity.

Transfer of the vascularized proximal end of the fibula to the radius has been reported in the tumor literature and has been described as treatment of radial dysplasia, but long-term results are not yet available in congenital cases.

Contraindications to Surgery

Life-threatening problems in other organ systems must be dealt with before surgery on the upper limb.

In patients with an ulnohumeral synostosis, surgery on the wrist is contraindicated because mobility of the wrist needs to be preserved so that the patients can get their hand to the mouth.

Bilateral centralizations often worsen function and are rarely advised.

History

Goller is said to have first described this deformity in 1693. However, it was Priestly in 1856 who presented a case of a newborn with an absent ulna and a hand with only a thumb and index finger. He recognized a longitudinal deficiency state different from deformities with transverse amputations.

Etiology

Ulnar deficiency is thought to be due to disruption in expression or signaling of the sonic hedgehog gene, an ulnarizing influence in the forelimb. ^, From studies in human embryos, the deficiency probably occurs during weeks 4 and 5 of fetal development, in the earliest stages of upper limb formation. Ogino and Kato induced longitudinal deficiency states in rats with busulfan. Ulnar deficiency probably develops earlier than radial deficiency in embryologic development.

ULD occurs as part of several syndromes whose genetic loci have been identified, and these syndromes are discussed elsewhere (see Chapter 21 ). However, the genetic details of the isolated spontaneous and most common form of ULD are unknown.

Clinical Features

Although the old terms ulnar clubhand and radial clubhand suggest that these two conditions are similar, patients with these conditions differ in almost every respect:

• 1.

  Anomalies of the heart and the hematopoietic and gastrointestinal systems are common in RLD but, even though reported, are rare in ULD.

• 2.

  Other musculoskeletal anomalies are absent in radial deficiency but are often present in ulnar deficiency. These anomalies vary widely and include proximal femoral focal deficiency, fibular and tibial ray deficiency, phocomelia, scoliosis, clubfeet, absent patellae, congenital dislocation of the hip, coxa vara, and spina bifida.

• 3.

  The wrist is usually unstable and a significant clinical problem in RLD. The wrist of a patient with ULD generally needs little treatment of the deformity, which is usually mild and rarely unstable.

• 4.

  The elbow in radial deficiency, if present, is stable. In patients with ulnar deficiency, the elbow may be stable, unstable, or fused.

• 5.

  In radial deficiency, either the hand is normal or only the radial components are affected. In ulnar deficiency, the deficit in the hands may occur on either the radial or the ulnar border of the hand, or on both.

• 6.

  Total absence of the radius is the most common manifestation of radial deficiency. In ulnar deficiency, partial absence is far more common.

• 7.

  The prevalence of radial deficiency is greater than the prevalence of ulnar deficiency, but it may not be as high as previously thought. At the Texas Scottish Rite Hospital for Children in Dallas, 147 ulnar-deficient limbs and 430 radial-deficient limbs have been treated. The reported incidence of ulnar deficiency is 1 in 100,000 live births.

Classification

To assist in surgical decision making for patients with this rare deformity and after consideration of the efforts of many previous investigators, we have settled on two clinically useful classification systems: the Bayne classification for forearm and elbow deformities and the Manske classification for hand deformities ( Fig. 12.79 ).

The Bayne classification is widely used and focuses on the elbow and forearm. The stability of the wrist is usually good in forearm variants unless the ulnar anlage is present.

The Manske classification of the hand defect associated with ulnar dysplasia is more important from a functional standpoint because the substantial functional gains are derived more often from surgical operations on the hands of these patients and less often from operations on their forearms or elbows. The surgeon’s main focus should be the hand, especially the thumb–index web space.

Type 0 ulnar longitudinal dysplasia has recently been proposed to describe those with isolated ulnar-sided hand deficiency with normal forearms.

Pathology

In some of the ulnar deficiency states, a curious fibrocartilaginous mass thought to represent the anlage of the absent portion of the ulna may be present. It is most often seen in Bayne types II and IV (see Fig. 12.79 ) and originates proximally in the distal end of either the ulna or the humerus. In the proximal portion, the ulnar anlage is formed of hyaline cartilage. Distally, the mass continues as fibrocartilage and may insert into the distal end of the radius, the carpal mass, or both. The structure has been described by Riordan as being similar to a fiberglass fishing rod, which allows bending but no increase in length.

Controversy exists over the significance of this fibrocartilage anlage and its effect on progressive bowing of the radius, deviation of the wrist, and dislocation of the radial head at the elbow. Some authors have suggested that the anlage is unimportant and requires no surgical treatment because follow-up in nonsurgically treated patients has not shown convincing evidence of progressive deformity. Others have suggested that early resection of the anlage at 6 months of age is indicated in healthy children.

Imaging

No unusual imaging techniques are required. As in cases of RLD, clinical measurement of deformity should augment the radiographic measurements of bowing and radial deviation, which are vulnerable to inconsistency in positioning for the radiographic study.

Treatment

Operative Treatment

Wrist

With evidence of greater than 30 degrees of ulnar deviation or evidence of progression, resection of the anlage is appropriate for a Bayne type II or IV forearm. Most of these children are usually otherwise healthy (unlike their radial dysplastic counterparts). Early treatment at 6 months of age is appropriate because as the child grows, the forearm will almost double in length twice, and the first doubling occurs in the first 3 years of life. Early resection affords the greatest possibility of reducing the tether of growth by the anlage.

The procedure is carried out with a lazy-S incision over the ulnar aspect of the forearm and wrist. Because the flexor carpi ulnaris is absent, the ulnar nerve and artery, when present, may lie immediately under the incision in the subcutaneous tissue. Once the neurovascular structures are identified and retracted, the anlage is dissected. It is a firm, fibrous structure that originates from the proximal residual ulna in type II or from the humerus in type IV (see Fig. 12.79 ). It is critical that distal dissection carefully and completely expose the attachment of the fibrous anlage to the carpus and, when present, to the radius. The structure is completely resected from the carpus and distal end of the radius. It should be easy to passively deviate the wrist at least to neutral after resection. Complete proximal excision of the anlage is less important. Osteotomy of the radius is appropriate if excessive bowing is present. After surgery, a reasonable period of follow-up stretching and splinting is instituted, usually for approximately 6 months.

Hand

Although forearm and wrist surgeries are best done during the first year of life, hand operations should be done later. Syndactyly and first web reconstructions are important procedures to improve use of the hands in these children. Better results come from more precisely done operations on slightly larger hands, and we prefer to delay hand surgery in these children until the second year of life.

Rotational osteotomies of the metacarpals are indicated for hands with digits that are aligned in the same plane. These flat hands make prehension with the pulp of the digits impossible, and osteotomies to rotate the metacarpals or phalanges into opposition can improve prehension. The rotation achieved at surgery has a tendency to return slowly to the preoperative state, and concomitant realignment of muscle power with tendon transfers may help prevent derotation.

Forearm

Creation of a one-bone forearm should be reserved for older children with type II dysplasia and is indicated only when the instability of the forearm is truly disabling, which is rarely the case. The price paid in loss of forearm rotation by a child with a severely disabled hand is rarely worth the additional stability or questionable cosmetic improvement afforded by a one-bone forearm. In our experience and that of others, any function gained from increased stability is greatly offset by the loss of forearm rotation needed to position the hand for use.

Elbow

In selected type IV cases, osteotomy of the elbow synostosis may be useful, especially when the elbow deformity positions the hand behind the child and away from the opposite, uninvolved hand ( Fig. 12.80 ). Although the benefit of this surgery is potentially great, vascular compromise secondary to tethering of vessels at the osteotomy is a serious risk. Because of the potential for catastrophic complications and loss of the limb, this is not an operation for an inexperienced pediatric upper limb surgeon.

Radial head resection for types II and III has been considered when the head is dislocated. However, we try to avoid radial head resection because pain is not usually a problem for these children. Radial head excision may increase elbow instability and should generally be avoided.

Classification

Figs. 12.81 and 12.82 show the proposed extension of the Bayne classification of radial and ulnar longitudinal dysplasia for children with a proximal limb anomaly. Physicians who treat these children, whether pediatrician or orthopaedic surgeon, should recognize the association of potentially life-threatening medical conditions with any form of radial dysplasia.

Etiology

Synostoses represent a failure of differentiation of parts. Although the precise cause of synostosis of the forearm is unknown, the time of occurrence is almost certainly during the earliest portion of embryonic limb development. No teratogenic trigger is known, but in a study by Jaffer and colleagues, 2 of 15 infants with fetal alcohol syndrome had the anomaly. At approximately 5 weeks after conception, the elbow forms from the three cartilaginous condensations representing the humerus, radius, and ulna. For a short period these cartilage analogues share a common perichondrium. A cavitation process ensues in which the three distinct bones are formed. If this process fails, enchondral ossification results in the bony synostosis. Because the forearm bones separate at a time when the fetal forearm is in pronation, essentially all forearm synostoses are fixed in this position.

The condition occasionally affects other members of the family, usually in an autosomal dominant inheritance pattern.

Because the event that causes radioulnar synostosis occurs so early in fetal development, when all organ systems are forming, it may be seen in conjunction with other syndromes, including Apert syndrome (acrocephalosyndactyly), Carpenter syndrome (acropolysyndactyly), arthrogryposis, mandibulofacial dysostosis, Klinefelter syndrome, and Poland anomaly. ^, Approximately one third of these patients have other anomalies, but no common pattern is seen. ^, Cardiovascular (tetralogy of Fallot and ventricular septal defects), thoracic (absence of the first rib or pectoral muscles), genitourinary, gastrointestinal, and central nervous system (microcephaly, hydrocephalus, encephalocele, mental retardation, delayed milestone attainment, hemiplegia) anomalies, as well as other musculoskeletal anomalies, are seen in association with radioulnar synostosis, but it is an isolated anomaly in one third of cases.

Clinical Features

Boys are slightly more often affected with radioulnar synostosis than girls are (3:2 ratio). The lesion is bilateral in 80% of cases. The diagnosis is often delayed, and patients frequently lack functional complaints when the position of fixed pronation is moderate and carpal compensatory hypermobility is adequate. Treatment of affected children is usually sought between 3 and 6 years of age. The amount of functional limitation caused by radioulnar synostosis and the need for operative treatment have been controversial, with some noting that operative correction is rarely indicated and that when surgical treatment is selected, it should be based more on limitations in function than on physical or radiographic findings.

Others have reported that most patients do have functional limitations related to the synostosis, including difficulty using a spoon or pencil, buckling belts, fastening buttons, and grasping small objects. Some patients have also reported difficulty with sporting activities.

It is important that a careful clinical measurement of the patient’s exact forearm fixed position be made as accurately as possible because intraoperative decisions are based in part on this assessment. All degrees of fixed pronation are seen, but the most common are less than 30 degrees of pronation (40%) and more than 60 degrees of pronation (40%). By comparing the angle of pronation with the plane of the palm, one may assess the compensatory rotation through the carpus, which is usually increased in these patients and enhances use of the hand, especially when the shoulder is normal.

Imaging

Radiographs typically show proximal radioulnar coalescence, but extensive synostosis extending distally into the forearm is occasionally seen. In our experience this is associated with Holt-Oram syndrome. Several classification systems based on radiographic appearance have been devised. Tachdjian noted three types :

• Type I: True congenital radioulnar synostosis, or the headless type. Here the radial head is absent and a bony fusion of the radius to the ulna is present. The distal ends are fused and the radius is bowed, is thicker than the ulna, and is not attached to it distally.

• Type II: Dislocated radial head type. The malformed radial head is posteriorly dislocated and the proximal end of the radius is fused with the ulna just below.

• Type III: No bony synostosis is present, but a thick fibrous interosseous ligament forms and attaches to each bone just distal to their proximal ends and prevents rotation. This is the rarest type in the Tachdjian classification.

In the classification of Cleary and Omer, four radiographic types represent a continuum from fibrous to complex bony synostosis. Cleary and Omer did not believe that this classification was helpful in assessing function or making decisions about treatment:

• Type I: Fibrous synostosis, with no bone changes but a stiff and smaller forearm (6/35, or 17%)

• Type II: Osseous synostosis, radial head present and reduced (3/35, or 9%)

• Type III: Osseous synostosis, radial head present and posteriorly dislocated (20/35, or 57%)

• Type IV: Osseous synostosis, radial head present and anteriorly dislocated (6/35, or 17%)

Sachar and colleagues reported progressive dislocation of the radial head in some patients.

Treatment

In our experience, most patients and parents envision restoration of forearm motion and are often not satisfied with adjustment of the position of the fixed forearm. This has led a few surgeons to attempt correction of the synostosis by inserting various material, both inert and biologic. Poor follow-up of these patients has precluded acceptance of any of these techniques by most hand and pediatric surgeons.

Even a simple positional change of the forearm may be associated with complications. Surgical intervention has been recommended by most surgeons only when a significant amount of pronation (usually > 60 degrees) is associated with functional limitations and complaints. Recommendations for the optimal postoperative position of the forearm vary ( Table 12.8 ).

Although correction by the Ilizarov method has been reported, we have no experience with it.

Results

The reported results of surgical treatment by rotational osteotomy and the complications have varied, with rates of good to excellent results ranging from 82% to 100% and complication rates from 15% to 33%. However, no study has demonstrated objective improvement after surgery with validated outcomes scores. Reported complications include wound infection, loss of correction, vascular compromise, compartment syndrome, and nerve injury.

Preferred Treatment at the Texas Scottish Rite Hospital for Children

We frequently advise against any surgical treatment. Although many patients definitely have limitations in function, most want full forearm rotation, not just an adjustment of the fixed position. The risk associated with surgical intervention in these cases should be weighed against the benefit of surgically changing the fixed position. When indicated, we favor osteotomies of the radius and ulna as reported previously.

Principles and Goals

In earlier practice it was thought that children with amyoplasia or “classic” arthrogryposis should not undergo surgery on the upper limbs. The children often adapted to the internally rotated shoulders, the stiff extended elbows, and the flexed wrists by developing a crossed-limb bimanual position that was functionally limited. Today, much greater function is achieved with early repositioning of the upper limbs, passive range of the elbows, adding active elbow flexion when possible, and bringing the wrists into extension to allow access to desktops and computers, as well as for feeding and personal care. The following principles must be respected:

• 1.

  Joint motion should be preserved or enhanced and not intentionally sacrificed.

• 2.

  Passive motion of a joint must be gained before restoring active motion.

• 3.

  Bimanual functional patterns should be facilitated; both hands are usually needed for all activities because multiple joints are involved and motion and strength are limited.

• 4.

  The entire upper limb should be considered a functional unit, and adjustments in position of the shoulder, elbow, wrist, and hand may be necessary. The hands should be positioned to access a working tabletop, especially important in this computer age.

The ultimate goal for most patients is independent living and employment, and proper upper limb management may help make this goal easier. Our preference is to complete the major changes in limb position by 4 years of age. We believe that by 8 years of age, use patterns are so well established that the child will have a much harder time adapting well to a new limb position, and decisions for older children must be made especially carefully.

Our first goal is to achieve passive elbow flexion. The second priority is to correct humeral rotation and then reposition the wrist and correct the thumb-in-palm deformity. Surgical procedures can be combined to minimize the number of anesthetic inductions needed, and they can often be done at the time of lower limb surgery if the patient and parents can tolerate the additional postoperative immobility.

Treatment

When these patients are seen early in life stretching and splinting is indicated as there is a “catch-up” period during the first year of life and improvements in both active and passive motion of the upper extremities can frequently be seen. In general, physical findings in the upper extremities are symmetric. If significant asymmetry is noted then further investigation of the C-spine is warranted.

Importantly, every child is different and treatment plans must be individualized.

Elbow

The elbow deformity is usually full extension without active flexion but with retention of some active triceps function. Many children have some variable passive flexion, but many others have a fixed contracture in full extension, and it may be difficult to determine the axis of joint motion. The goal of surgical care of the upper limb is elbow flexion greater than 90 degrees. Tricepsplasty followed by assiduous exercising will predictably increase the passive ROM of the elbow and allow hand-to-mouth activities without requiring subsequent tendon transfer surgery. Elbow stability in extension can usually be preserved, and if an elbow flexion contracture develops, modified crutches can be used. Most children who require extensive ambulatory aids for their lower limb involvement do not continue to be community ambulators into adulthood, and deferral of upper limb treatment to preserve crutch gait will compromise their potential use of the upper limbs in a computer-based livelihood later in life.

Posterior Release With Tricepsplasty

Posterior elbow release with tricepsplasty is done through a posterior curvilinear incision. The ulnar nerve should be released from its tunnel and transferred anteriorly into a subcutaneous or submuscular tunnel to protect it. A soft tissue sling is secured to the medial epicondyle to prevent posterior slipping of the nerve after surgery.

The triceps is lengthened through a long W incision, with the lateral and medial limbs of the W extending into the triceps expansion on both sides of the olecranon. The central fibers of the triceps tendon are released from the tip of the olecranon. The posterior capsule of the elbow is opened and the elbow gently flexed to serially release the most posterior fibers of the collateral ligaments as necessary and allow easy passive flexion greater than 90 degrees. Care must be taken to make sure that the motion is flexion and not “hinging,” and release of the proximal anterior capsule may be necessary to make room for the coronoid process and prevent this hinge phenomenon. Care must also be taken to avoid fracture or epiphyseal separation during manipulation into flexion. It should be possible both to flex the elbow and to maintain medial–lateral stability. The triceps is closed in a long V-to-Y design with the medial and lateral limbs closed over the central tongue of the triceps tendon and the distal defect at the olecranon closed primarily.

After surgery, the elbow is splinted in at least 90 degrees of flexion for the first 3 weeks. Passive ROM exercises are begun and a resting splint is used for another 3 weeks. The parents should be taught to work with the child over the next several months to maintain both flexion and extension. Parents must know that this is arduous and time-consuming and that children often do not enjoy the therapy sessions.

Procedures to Achieve Active Elbow Flexion

The ideal tissue to gain active elbow flexion would be an expendable muscle, synergistic with elbow flexion, that can be appropriately aligned and has good strength. It cannot be unopposed or a flexion contracture will develop. Unfortunately, this combination is not available for most children with this disorder. Preoperative selection of a muscle–tendon unit for transfer is difficult and not aided by imaging studies. It may be necessary to make an incision over the proposed muscle to evaluate its bulk, color, and contractility (with electrical stimulation) before using that muscle for transfer.

Bipolar Pectoralis Major Transfer

The entire pectoralis major muscle can be transferred by mobilizing it on its neurovascular pedicle. The muscle is routed so that the tendon of insertion is transferred to the coracoid or acromion, which becomes the new origin of the muscle ( Fig. 12.83 ). The broad fascia of the origin is mobilized and transferred to the ulna, either directly or with a graft if necessary. This may be a good option if the pectoralis major is strong. The disadvantage of this transfer is that the scars may be disfiguring, especially in girls, with resulting breast asymmetry if done unilaterally. In addition, the result achieved deteriorates over the long term with the development of an intractable flexion contracture.

Bipolar Latissimus Transfer

For this transfer the entire latissimus dorsi is mobilized on its pedicle and moved anteriorly through the axilla ( Figs. 12.84 to 12.86 ). The original tendon of insertion is moved to the coracoid or acromion, where it becomes the origin of the new muscle arrangement. The remainder of the muscle and its fascial prolongation are attached to the ulna distal to the coronoid process. This transfer is used if the latissimus is strong, but in most arthrogrypotic children the muscle is fibrotic and not of satisfactory quality for transfer.

Transfer of the Long Head of the Triceps

This transfer is feasible because the long head of the triceps has a separate neurovascular pedicle and is sufficiently independent from the rest of the triceps to be easily separated. The size of the triceps muscle is variable in these children and directed examination may be very difficult. We use MRI to assess the size of the lateral, medial, and long head of triceps muscle. Besides having an adequate long head, sufficient lateral and/or medial head must be present to allow active elbow extension otherwise a severe elbow flexion contracture can result after transfer. A fascia lata graft is used to prolong the tendon and allow insertion into the proximal end of the ulna. Although the muscle is not large, satisfactory active elbow flexion can be gained without loss of active elbow extension in selected cases. A description of this procedure can be found in a recent publication.

Complete triceps transfer is mentioned only to be condemned. It had been mentioned often in the literature and is still used by some surgeons; however, the resulting unopposed elbow flexion is functionally worse than the lack of elbow flexion. Fixed, resistant contractures develop and are difficult, if not impossible, to salvage.

Steindler Flexorplasty

Transfer of the flexor pronator muscle origin to the anterior aspect of the humerus to flex the elbow works only if the patient is able to isolate the muscle before surgery and can also stabilize the wrist against excess flexion with the radial wrist extensors. In children with arthrogryposis, this operation usually results only in unacceptable greater wrist flexion because the child is unable to extend the wrist in a cocontraction at the same time that the transferred flexor muscle origin flexes the elbow. This procedure should not be done.

Free Gracilis Transfers

Theoretically, the gracilis can serve as a free muscle donor to the anterior aspect of the arm to flex the elbow. Innervation would have to be by nerve transfer from the intercostals or other donor tissue, which sacrifices function of a muscle in or near the upper limb. In addition, the gracilis is often abnormal, absent, or fibrotic in children with arthrogryposis. However, this has been reported to be a successful option in select patients. ^,

Wrist

The wrist in arthrogryposis is usually flexed and deviated ulnarward, and a small ROM is available. All the structures on the volar side are contracted, including the joint capsule, the tendons, the skin, and subcutaneous tissue. The radial wrist extensors are fibrotic and nonfunctional, but the extensor carpi ulnaris is often spared. Carpal coalitions are common.

Early stretching and splinting have been recommended, but their efficacy is uncertain. Overzealous, painful stretching is clearly inappropriate. Surgical treatment is indicated to reorient the wrist into a neutral position while maintaining available motion. We have found midcarpal biplanar wedge resection to be the most useful procedure for correcting flexion and ulnar deviation. Simultaneous release of tight volar structures and transfer of an appropriate tendon to provide radial extension can be done if a donor tendon is available. Frequently, the extensor carpi ulnaris is available and works well for this transfer. ^{, , ,}

Dorsal Closing Wedge Osteotomy of the Midcarpus and Tendon Transfers

Release of the tight volar structures is accomplished through a transverse or longitudinal incision on the flexor surface of the distal third of the forearm. The fascia over the wrist flexors is opened. If the flexor carpi ulnaris has muscle bulk and excursion, it may be lengthened either at the intramuscular level or by Z-lengthening. In the usual case the flexor carpi ulnaris, flexor carpi radialis, and palmaris longus are fibrotic and should be divided at the wrist to increase passive extension. The superficial fascia should also be divided transversely.

A second dorsal incision is made at the level of the proximal carpal row. The digital and thumb extensors are isolated and protected. The two radial wrist extensors are isolated from the dorsal capsule and divided as far proximally as possible in the distal end of the forearm. These tendons usually become confluent with the dorsal capsule and are difficult to dissect. No muscle will be functioning to extend the wrist through these tendons. The extensor carpi ulnaris is mobilized from the insertion, across the wrist, and into the midforearm, where it is exposed in another incision. It is divided at its insertion and pulled into the proximal part of the wound, with care taken to keep all healthy musculature attached to the tendon. The extensor carpi ulnaris is then transferred across the dorsal aspect of the wrist, under subcutaneous fat, into the wound at the dorsum of the wrist.

The radiocarpal capsule is left intact. Just distal to the radiocarpal joint, a distally based capsular flap can be developed and reflected toward the metacarpals to expose the bony or cartilaginous dorsal carpus. A biplanar wedge of bone is scored, incised, and then removed from the midcarpus, distal to the wrist joint. The two cuts are made with the wrist supported in its maximally extended position, with the proximal cut perpendicular in both planes to the long axis of the forearm and the distal cut perpendicular in both planes to the long axis of the metacarpus. This creates an asymmetric wedge, wider dorsally and radially, that when removed from the wrist allows the defect to be closed and the wrist to be brought to neutral position ( Figs. 12.87 and 12.88 ).

The cuts are adjusted so that the surfaces can be apposed. Great care must be taken to preserve the radiocarpal joint. Several nonabsorbable sutures are placed before closing the defect and transfixing the wrist with a heavy Kirschner wire. The sutures are tied to secure the carpus in a coapted position, and then the dorsal capsule is trimmed and closed over the osteotomy. The tendon of the extensor carpi ulnaris is sutured to the stump of the radial wrist extensor tendons with nonabsorbable suture ( Fig. 12.89 ).

The wrist is splinted and casted for 6 weeks and then protected in a removable splint for at least another 6 to 12 months.

If the child is still young, the unossified carpus can be cut with a scalpel. In a child with more bone present, small osteotomies will be needed.

Proximal Row Carpectomy

Proximal row carpectomy was used in the past, but because the capitate and radial articulations are grossly abnormal and because carpal coalitions are usually present, albeit not obvious in a young child, this operation results in increased stiffness and destruction of the only mobile joint in the wrist.

Wrist Fusion

Wrist fusion should be avoided because all motion is lost at the wrist of an arthrogrypotic child. It can be reserved for a salvage operation to correct a stiff, unacceptable position in an older child who has no other option to preserve motion.