Diseases with Names

Aarskog Syndrome

Aarskog syndrome is an extremely rare genetic disorder marked by stunted growth that may not become obvious until the child is about 3 years of age, and also by broad facial abnormalities, musculoskeletal and genital anomalies, and mild mental retardation.

• Aarskog D. A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr 1970;70:856–861.

Achondrogenesis

Type I: Parenti-Fraccaro—severe chondrodystrophy characterized radiographically by deficient ossification in the lumbar vertebrae and absent ossification in the sacral, pubic, and ischial bones and clinically by stillbirth or early death. Type II: Langer-Saldino—a lethal form of neonatal dwarfism characterized by a short trunk, disproportionately large head, prominent abdomen, hydropic appearance, and micromelia. Death usually occurs in utero or shortly after birth.

• Parenti GC. La anosteogenesi (una varieta della osteogenesi imperfetta). Pathologica 1936;28:447–462.

• Fraccaro M. Contributo allo studio delle malattie del mesenchima osteopoietico: l'acondrogenesi. Folia Hered Path 1952;1:190–208.

• Langer LO, Spranger JW, Greinacher L, Herdman RC. Thanatophoric dwarfism. Radiology 1969;92:285–294.

• Saldino RM. Lethal short-limbed dwarfism: achondrogenesis and thanatophoric dwarfism. AJR Am J Roentgenol 1971;112:185–197.

Ahlback Disease

Spontaneous osteonecrosis about the knee, distinct from osteochondritis dissecans, occurring in older individuals.

• Sven-Olof Ahlback, 1927–1995, Swedish radiologist.

Albers-Schönberg Disease

Autosomal dominant osteopetrosis, type II (ADO II), is the most common form of osteopetrosis, a group of conditions characterized by an increased skeletal mass due to impaired bone and cartilage resorption.

• Albers-Schönberg HE. Projektions-Röntgenbilder einer seltenen Erkrankung. Fortschr Geb Röntgen 1903–1904;7:158–159.

Albright Hereditary Osteodystrophy (Pseudohypoparathyroidism)

Characteristic phenotype of short stature, round face, short neck, and shortening of metacarpal and metatarsal bones with low serum calcium and high serum phosphorus unresponsive to parathyroid hormone.

• Albright F, Burnett CH, Smith PH, Parson W. Pseudo-hypoparathyroidism: an example of “Seabright-Bantam syndrome.” Endocrinology 1942;30:922–932.

Allison-Ghormley Nodule

Small aggregates of lymphocytes infiltrating the superficial portions of the synovium in rheumatoid arthritis during the acute inflammatory phase of the disease.

• Grimley PM, Sokoloff M. Synovial giant cells in rheumatoid arthritis. Am J Pathol 1966;49:931.

• Donald KJ, Ker JFR. Giant cells in the synovium in rheumatoid arthritis. Med J Aust 1968;1:761.

Andersson Lesion

Discovertebral destructive lesions seen in ankylosing spondylitis related to cartilaginous node formation, enthesopathy, and fracture.

• Andersson O. Rontgenbilden vid spondylarthritisankylipoetica. Nord Med Tidskr 1937;14:2000.

Antley-Bixler Syndrome

Craniosynostosis associated with radiohumeral synostosis, choanal stenosis, midfacial hypoplasia, femoral bowing, and urogenital anomalies.

• Antley RM, Bixler D. X-trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects Orig Article Ser 1975;XI(2):397–401.

Askin Tumor

Peripheral neuroectodermal tumor, most commonly occurring in the chest wall and thoracopulmonary soft tissues in children and adolescents. Less frequently it is found in the retroperitoneum and the soft tissues of the pelvis and extremities.

Baastrup Disease

Apposition of adjacent spinous processes with reactive sclerosis associated with pain and degenerative disease of the spine ( Fig. 1 ).

• Baastrup CI. Proc. spin. vert. lumb. und einige zwischen diesen liegenden Gelenkbildungen mit pathologischen Prozessen in dieser Region. Fortschr Geb Röntgen 1933;48:430–435.

Baker Cyst

Popliteal cyst or fluid-filled medial gastrocnemius-semimembranosus bursa communicating with the joint. In 1877, William Morrant Baker described eight cases of periarticular cysts caused by synovial fluid that had escaped from the knee joint and formed a new sac outside the joint.

• Baker WM. The formation of abnormal synovial cysts in connection with the joints: II. St. Bart's Hosp Rep Lond 1885;21:177–190.

Baller-Gerold Syndrome

Autosomal recessive craniosynostosis syndrome associated with radial hypoplasia.

• Baller F. Radiusaplasie und Insucht. Z Mensch Vererbungs Konstit 1950;29:782–790.

• Gerold M. Frakturheilung bei einem seltenen Fall kongenitaler Anomalie der oberen Gliedmassen. Zentralbl Chir 1959;84:831–843.

Bankart Lesion

Anteroinferior glenoid injury accompanying anterior dislocation of the humeral head that may be cartilaginous or osseous.

• Bankart AB. The pathology and treatment of recurrent dislocation of the shoulder joint. Br J Surg 1938;26:23.

Bannayan Syndrome

The syndrome consists of lipomatosis, angiomatosis, and macroencephaly.

• Bannayan GA. Lipomatosis, angiomatosis, and macrocephalia: a previously undescribed congenital syndrome. Arch Pathol 1971;92:1–5.

Becker Muscular Dystrophy

A rare and relatively benign form of muscular dystrophy of pelvic-girdle type with better prognosis than Duchenne dystrophy. It is characterized by weakening and greater enlargement of calves during adolescence or young adulthood but later onset and slower rate of progression. Frequently associated with colorblindness.

• Becker PE, Kiener F. Eine neue x-chromosomale Muskeldystrophie. Arch Psych Nevenkrankh 1955;193:427–448.

Behçet Syndrome

A multisystem, chronic recurrent disease initially characterized by ulceration in the mouth and genitalia, iritis, and uveitis. Additional organ systems may be involved, including the skin; the cardiovascular, neurologic, or gastrointestinal systems; and joints. Articular symptoms are present in up to 50% of patients, but radiographic findings of joint space narrowing and osseous erosions, including sacroiliitis, are rare.

• Behçet H. Über rezidivierende, aphtöse, durch ein Virus verursachte Geschwüre am Mund, am Auge und an den Genitalien. Dermatol Wochenschr 1937;105:1152–1163.

Bekhterev-Strümpell-Marie Disease

Also known as ankylosing spondylitis.

• von Bekhterev VM. Oderevenelast Pozvonochikas Iskrivleniemego, Kak Osabia Forma Zabolevaniia. St. Petersburg, Vrach, 1892, vol 13, pp 899–903.

• Marie P. Sur la spondylose rhizomélique. Rev Méd 1898;18:285–315.

• von Strümpel A. Lehrbuch der speciellene Pathologie und Therapie der inneren Krankheiten. Leipzig, F.C.W. Vogel, 1884, vol 2, p 152.

Bennett Lesion

Enthesophyte at the posteroinferior glenoid rim at the insertion of the posterior band of the inferior glenohumeral ligament complex.

• Edward Hallaran Bennett, 1837–1907, Irish surgeon.

Blount Disease

Tibia vara, a local growth disturbance of the medial aspect of the proximal tibial physis.

• Erlacher P. Deformierende Prozesse der Epiphysengegend bei Kindern. Arch Orthop Unfallchir 1922;20:81.

• Blount WP. Tibia vara: osteochondritis deformans tibiae. J Bone Joint Surg 1937;19:1.

Bouchard Nodes

Bony enlargement or osteophytosis about the proximal interphalangeal joints of the fingers in patients with osteoarthritis.

• Resnick D, Niwayama G. Degenerative disease of extraspinal locations. In Resnick D (ed). Diagnosis of Bone and Joint Disorders, 2nd ed. Philadelphia, WB Saunders, 1988, pp 1365–1479.

Brodie Abscess

A localized pyogenic abscess cavity arising in the metaphysis of long bones.

• Brodie BC. An account of some cases of chronic abscess of the tibia. Med Chir Trans Lond 1832;17:239–249.

Buchanan Disease

Juvenile osteochondritis of the iliac crest.

• Resnick D, Niwayama G. Osteochondroses. In Resnick D (ed). Diagnosis of Bone and Joint Disorders, 2nd ed. Philadelphia, WB Saunders, 1988, pp 3288–3334.

Buford Complex

A relatively uncommon variation of anterior capsulolabral shoulder anatomy that is characterized by a cordlike, thick middle glenohumeral ligament and absence of the anterior superior glenoid labrum.

Bureau-Barriere Syndrome

Nonhereditary (sporadic) sensory and autonomic neuropathy, associated with perforating ulcers of the soft tissues and foot deformities.

Burnett Syndrome

Chronic form of milk-alkali syndrome that is characterized by unilateral or bilateral periarticular calcium deposits that are amorphous and vary from small nodules to bulky tumors.

• Burnett CH, Burrows BA, Commons RR. Studies of alkalosis: I. Renal function during and following alkalosis resulting from pyloric obstruction. J Clin Invest 1950;29:169–174.

Burns Disease

Juvenile osteochondritis of the lower ulna.

• Resnick D, Niwayama G. Osteochondroses. In Resnick D (ed). Diagnosis of Bone and Joint Disorders, 2nd ed. Philadelphia, WB Saunders, 1988, pp 3288–3334.

Buschke-Ollendorff Syndrome

A syndrome associated with osteopoikilosis, pea-sized papules and disseminated dermatofibrosis.

• Buschke A, Ollendorff-Curth H. Ein Fall von Dermatofibrosis lenticularis disseminata und Osteopathia condensans disseminata. Dermatol Wochenschr 1928;86:257–262.

Caffey Disease (Infantile Cortical Hyperostosis)

Idiopathic neonatal cortical hyperostosis involving multiple bones, especially the mandible, clavicles, ribs and the shafts of long bones, occurring in infants younger than 5 months of age.

• Caffey J, Silverman WA: Infantile cortical hyperostosis: preliminary report on a new syndrome. AJR Am J Roentgenol 1945;54:1.

Calvé Syndrome

Aseptic epiphyseal necrosis with flattening of the vertebral bodies in children. It may be acute or insidious and is most frequent in boys. The condition is probably caused by diminished blood supply resulting in fragmentation and collapse of the affected vertebrae. Eosinophilic granulomas may be the cause.

• Calvé J. Sur une affection particulière de la colonne vertébrale chez l'enfant simulant le mal de Pott. Ostéo-chondrite vertébrale infantile. J Radiol Électrol 1925;9:22–27.

• Calvé J. A localized affection of the spine suggesting osteochondritis of the vertebral body, with the clinical aspect of Pott's disease. J Bone Surg 1925;7:41–46.

Camurati-Engelmann Disease (Diaphyseal Dysplasia)

A condition characterized by thickening of the cortex of the midshaft area of the long bones, progressing toward the epiphyses, with the thickening sometimes occurring also in the flat bones; excessive growth in length of bones of the extremities usually results in abnormal stature.

• Girdany BR, Sane F, Graham CB. Engelmann's disease. In Kaufman H (ed). Intrinsic Diseases of Bone (Progress in Pediatric Radiology, Vol 4). Basel, S. Karger, 1973, p 414.

Carpenter Syndrome (Acrocephalopolysyndactyly)

Congenital malformation in which oxycephaly, brachysyndactyly of hand, and preaxial polydactyly of feet are associated with mental retardation; it is usually inherited as an autosomal recessive trait, but there is also a dominant form.

• Frias JL, Felman AH, Rosenbloom AL, et al. Normal intelligence in two children with Carpenter's syndrome. Am J Med Genet 1978;2:191.

Chandler Disease

Spontaneous, idiopathic osteonecrosis of the femoral head.

Charcot Joint (Neuropathic Arthropathy)

Chronic progressive joint instability and disintegration secondary to loss of normal neurologic function, either upper motor neuron or lower motor neuron related. There are numerous causes, including tabes dorsalis, syringomyelia, and diabetes mellitus.

• Charcot JM: Sur quelques arthropathies qui paraissent d'ependre d'une lesion du cerveau ou de lamoelle epiniere. Arch Physiol Norm Pathol 1868;1:161.

Charcot-Marie-Tooth Disease

Heritable motor and sensory neuropathy. On imaging, muscle atrophy is targeting the lower extremities. The atrophy is bilateral but may asymmetric. The most profound atrophy is located classically in the lateral compartment of the midcalf and more diffusely in the distal calf.

• Charcot JM, Marie P. Sur une forme particulière d'atrophie musculaire progressive, souvent familiale débutant par les pieds et les jambes et atteignant plus tard les mains. Rev Méd 1886;6:97–138.

• Tooth HH. The peroneal type of progressive muscular atrophy. Dissertation. London, H. K. Lewis, 1886.

Chotzen Syndrome

An autosomal dominant disorder characterized by acrocephalosyndactyly in which the syndactyly is mild and accompanied by hypertelorism, ptosis, and sometimes mental retardation.

• Friedman JM, Hanson JW, Graham CB, Smith DW: Saethre-Chotzen's syndrome: a broad and variable pattern of skeletal malformations. J Pediatr 91:929, 1977.

Clutton Joint

Painless symmetrical hydrarthrosis, especially of the knee joints, seen in congenital syphilis.

• Henry Hugh Clutton, English surgeon, 1850–1909.

Conradi-Hünermann Disease (Chondrodysplasia Calcificans Congenita)

Autosomal dominant inheritance characterized by asymmetric calcifications and dysplastic skeletal changes, less frequent occurrence of congenital cataracts, and ichthyosis compared with other forms, but with a relatively good prognosis.

• Spranger J. The epiphyseal dysplasias. Clin Orthop Relat Res 1976;114:46.

Cope Syndrome

Intermediate form of milk-alkali syndrome characterized by unilateral or bilateral periarticular calcium deposits that are amorphous and vary from small nodules to bulky tumors.

Crohn Disease

Inflammatory bowel disease associated with inflammatory spondyloarthropathy and hypertrophic osteoarthropathy.

• Crohn BB, Ginzburg L, Oppenheimer GD. Regional ileitis: a pathologic and clinical entity. JAMA 1932;99:1323–1329.

• White WH. Colitis. Lancet 1895;1:537 (first described association between colitis and arthritis).

Crouzon Syndrome

It is characterized by craniosynostosis, exophthalmos, and midface retrusion.

• Crouzon LEO. Dysostose cranio-faciale héréditaire. Bull Soc Méd Hôp Paris 1912;33:545–555.

De Quervain Disease

Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis ( Fig. 2 ).

• de Quervain F. Über eine Form von chronischer Tendovaginitis. Corres Blatt Schweiz Aerzte 1895;25:389–394.

Dejerine-Sottas Neuropathy

Recessive hereditary motor and sensory neuropathy associated with skeletal deformities, ataxia, night blindness, ichthyosis, and early demise.

• Dejerine JJ, Sottas J. Sur la névrite interstitielle hypertrophique et progressive de l'enfance; affection souvent familiale et à debut infantile, caractérisée par une atrophie musculaire des extrémities, avec troubles marqués de la sensibilité et ataxie des mouvements et relevant d'une névrite interstitielle hypertrophique a marche ascendante avec lésions médullaires consécutives. Comptes Rendus Séances Soc Biol 1893;45:63–96.

Down Syndrome

Trisomy 21 (95%), mosaics, translocations (5%), with multiple organ system involvement and numerous musculoskeletal anomalies.

• Down JLH. Marriages in consanguinity in relation to degeneration of race. Clin Lect Rep Med Surg Staff Lond Hosp 1866;3:224–236.

Duchenne Muscular Dystrophy

The most common and severe type of pseudohypertrophic muscular dystrophy; chronic and progressive, it begins in early childhood. It is characterized by increasing weakness in the pelvic and shoulder girdles, with pseudohypertrophy of the muscles followed by atrophy, lordosis, and a peculiar swaying gait with the legs kept wide apart. It is transmitted as an X-linked trait, and affected individuals, predominantly males, rarely survive to maturity; death is usually due to respiratory weakness or heart failure.

• Duchenne GB. Recherches sur la paralysie musculaire pseudo-hypertrophique, ou paralysie myo-sclérosique. Arch Gén Méd 1868;11:5–25, 179–209, 305–321, 421–443, 552–588.

Dupuytren Contracture

Fibromatosis of the palmer aponeurosis and its extensors with resulting contracture of the fingers in one or both hands, especially the third through fifth digits.

• Dupuytren G. De la rétraction des doigts par suite d'une affection de l'aponévrose palmaire, opération chirurgicale qui convient dans ce cas. J Universel Hebdomadaire Méd Chir Pratiques Inst Méd 1831;5:352–365.

Dyggve-Melchior-Clausen Syndrome

A familial skeletal disorder characterized by short trunk dwarfism, exaggerated lordosis, protrusion of the sternum, flattened vertebral bodies, small hands and feet, clawed fingers, and mental retardation.

• Dyggve HV, Melchior JC, Clausen J: Morquio-Ullrich's disease. An inborn error of metabolism? Arch Dis Child 1962;37:525.

Eagle Syndrome

Calcification or ossification of the stylohyoid ligament associated with dysphagia, abnormalities of taste and a “lump” in the throat.

• Eagle WW. Elongated styloid process. Arch Otolaryngol 1937;25:584–587.

Ehlers-Danlos Syndrome

An inherited disorder of the elastic connective tissue characterized by hyperelasticity of the skin, hypermobility of the joints due to extremely lax ligaments and tendons, and poor wound healing. There are numerous types and substantial clinical variation.

• Ehlers EL. Cutis laxa. Neigung zu Haemorrhagien in der Haut, Lockering mehrerer Artikulationen. Dermatol Z 1901;8:173–174.

• Danlos H. Un cas de cutis laxa avec tumeurs par contusion chronique des coudes et des genoux (xanthome juvénile pseudo-diabetique de MM Hallopeau et Macé de Lépinay). Bull Soc Fr Dermatol Syphiligr 1908;19:70–72.

Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)

A rare genetic disorder characterized by short-limb dwarfism, polydactyly (additional fingers or toes), malformation of the bones of the wrist, dystrophy of the fingernails, partial hare-lip, cardiac malformation, and often prenatal eruption of the teeth.

Erb Dystrophy (Dystrophia Musculorum Progressiva)

A slowly progressing, juvenile form of muscular dystrophy, affecting each sex equally. Onset at any age from first to sixth decade but usually between 20 and 30 years of age. Occurs in two forms. In Erb type the proximal muscles of the arms are first involved, with resultant difficulty in raising the hands above the head. Later there is successive involvement of the deltoid and erector spinae muscles, and eventually the muscles of the trunk, pelvic girdle, and thigh also become affected.

• Erb WH. Über die “juvenile Form” der progressiven Muskelatrophie und ihre Beziehungen zur sogenannten Pseudohypertrophie der Muskeln. Dtsch Arch Klin Med 1884;34:467–519.

Erdheim-Chester Disease (Lipid Granulomatosis)

Rare lipidosis affecting individuals over 50 years of age with involvement of the cardiovascular and respiratory systems, skin, and bones. The long bones are invariably affected. Changes predominate at the diaphysis and metaphysis with patchy or diffuse increase in density, coarsened trabecular pattern, medullary sclerosis, and cortical thickening.

• Chester W. Über Lipoidgranulomatose. Virchows Arch Pathol Anat Physiol Klin Med 1931;279:561–602.

Ewing Sarcoma

A highly malignant primitive small round cell tumor of bone, usually occurring in the diaphyses of long bones, ribs, and flat bones of children or adolescents. It is characterized by saucerization of the cortex; patchy, permeative destruction; and often a large soft tissue mass. The most common symptoms include pain, swelling, leukocytosis, and fever. Extraskeletal Ewing sarcoma and primitive neuroectodermal tumor of the soft tissues may be the same entity.

• Ewing J. Diffuse endothelioma of the bone. Proc N Y Pathol Soc 1921;21:17.

Fabry Disease

An X-linked lipid storage disorder characterized by the lack of the enzyme ceramide trihexosidase resulting in the accumulation of ceramide trihexoside in various tissues, affecting multiple organ systems. Musculoskeletal manifestations include lipid deposition in the synovial compartments causing enlargement of the joint capsules and tendon sheaths, osteoporosis and osteonecrosis.

• Fabry J. Ein Beitrag zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae). Arch Dermatol Syph 1898;43:187–200.

Fairbank-Ribbing Disease (Multiple Epiphyseal Dysplasia)

Limb epiphyses show delayed appearing centers of ossification, often demonstrating a fragmented appearance. Joint involvement is usually symmetric. Also, premature arthrosis of weight-bearing joints, most frequently the hips, due to delay in ossification of the capital femoral epiphysis. The cartilaginous femoral head model becomes misshapen and incongruous with time, leading to early arthritis.

• Ribbing S. Studien uber hereditare, multiple Epiphysenstrorungen. Acta Radiol Suppl 1937;34:1.

• Fairbank T. Dysplasia epiphysialis multiplex. Br J Surg 1947;34:225.

Fanconi-Albertini-Zellweger Syndrome

The characteristic features of this syndrome include growth retardation, osteoporosis with spontaneous fractures, curving of the long bones, congenital heart defect, peculiar facies, albuminuria, metabolic acidosis, and cerebrospinal fluid changes.

• Fanconi G, Albertini A, Zellweger H. Osteopathia aciotica pseudorachitica. Helv Paediatr Acta 1948;2:95–112.

Farber Disease

Rare, inheritable lipid storage disorder characterized by the deficiency of ceramidase with accumulation of ceramide in various tissues. Massive body demineralization and articular erosion may be associated.

• Farber S. A lipid metabolism disorder—disseminated “lipogranulomomatosis”—a syndrome with similarity to, and important difference from, Niemann-Pick and Hand-Schüller-Christian disease. Am J Dis Child 1962;84:499–500.

• Farber S, Cohen J, Uzman LL. Lipogranulomatosis: a new lipo-glyco-protein “storage” disease. J Mt Sinai Hosp 1957;24:816–837.

Felty Syndrome

Rheumatoid arthritis associated with splenomegaly and leukopenia.

• Felty AR. Chronic arthritis in the adult, associated with splenomegaly and leucopenia: a report of 5 cases of an unusual clinical syndrome. Bull Johns Hopkins Hosp 1924;35:16.

Fong Syndrome (Osteo-Onychodysplasia)

It is characterized by dysplastic fingernails, hypoplastic or absent patella, iliac horns, renal dysplasia, and other bony deformities.

• Fong EE. “Iliac horns” (symmetrical bilateral central posterior iliac processes). Radiology 1946;47:517–518.

Forestier Disease

Ossification of the anterior longitudinal ligament at the thoracic region. This paravertebral ossification may simulate the changes of ankylosing spondylitis. The sacroiliac joints are not involved. Similar ligamentous ossification throughout the body is referred to as diffuse skeletal hyperostosis (DISH).

• Forestier J, Rotés-Quérol J. Hyperostose ankylosante vertebrale: ankylosing hyperostosis of the spine. Ann Rheum Dis 1950;9:321–330.

Freiberg Disease

Osteonecrosis of the metatarsal head, most commonly the second one.

• Freiberg AH. The so-called infarction of the second metatarsal bone. J Bone Joint Surg 1926;8:257.

• Freiberg AH. Infarction of the second metatarsal bone; a typical injury. Surg Gynecol Obstet 1914;19:191.

Gardner Syndrome

Familial adenomatous polyposis of the large bowel associated with osteomatosis and soft tissue tumors, especially desmoids.

• Gardner EJ, Plenk HP: Hereditary pattern for multiple osteomas in a family group. Am J Hum Genet 1952;4:31.

Garré Osteomyelitis (Sclerosing Nonsuppurative Osteomyelitis)

Chronic osteomyelitis involving the long bones, particularly the tibia and femur, and characterized by intense reactive sclerosis without necrosis and purulent exudate.

Gaucher Disease (Glycosylceramide Lipidosis)

Lipid storage disorder of cerebroside metabolism with the accumulation of characteristic Gaucher cells (enlarged, lipid-laden histiocytes) in various tissues of the body. There are three types. Musculoskeletal complications include bone marrow infiltration, modeling deformities including “Erlenmeyer flask” deformity, infarction and osteonecrosis, infection, and fracture. Philippe Gaucher described the disease in his doctoral thesis in 1882. The biochemical basis for the disease would be elucidated in 1965 by Brady and colleagues.

• Gaucher PCE. De l'epithelioma primitif de la rate, hypertrophie idiopathique de la rate sans leucemie. Academic thesis, Paris, France, 1882.

Goldenhar Syndrome (Oculoauriculovertebral Dysplasia)

A congenital condition in which colobomas of the upper eyelid, epibulbar dermoids, bilateral accessory auricular appendages anterior to the ears, and vertebral anomalies are frequently associated with characteristic facies, consisting of asymmetry of the skull, prominent frontal bossing, low hairline, mandibular hypoplasia, low-set ears, and sometimes hemifacial microstomia.

• Goldenhar M. Associations malformatives de l'oeil et de l'oreille, en particulier le syndrome dermoïde epibulbaire-appendices auriculaires-fistula auris congenita et ses relations avec la dysostose mandibulo-faciale. J Génét Hum 1952;1:243–282.

Goltz Syndrome (Focal Dermal Hypoplasia)

A disorder with a constellation of findings, including focal dermal hypoplasia, ocular defects, and skeletal abnormalities. Radiographic features include syndactyly, microcephaly, vertebral segmentation defects, and scoliosis. This syndrome has been noted in association with solitary or multifocal giant cell tumors, and a relationship may exist with osteopathia striata.

• Goltz RW, Peterson WC, Gorlin RJ, Ravits HG. Focal dermal hypoplasia. Arch Dermatol 1962;86:708–717.

• Gorlin RJ, Meskin LH, Peterson WC Jr, Goltz RW. Focal dermal hypoplasia syndrome. Acta Derm Venereol 1963;42:421–440.

Gorham Disease (Massive Osteolysis, Vanishing Bone Disease)

A progressive condition characterized by massive osteolysis involving multiple contiguous bones. Pathologic examination demonstrates hemangiomatosis and lymphangiomatosis.

• Jackson JBS. A boneless arm. Boston Med Surg J 1838;18:368–369.

• Gorham LW, Wright AW, Schultz HH, Maxon FC. Disappearing bones: a rare form of massive osteolysis, report of two cases, one with autopsy findings. Am J Med 1954;17:674–681.

• Gorham LW, Stout AP. Massive osteolysis (acute spontaneous absorption of bone, phantom bone, disappearing bone). J Bone Joint Surg 1955;15:985–1004.