Paediatrics - Clinical Tree

Retarded skeletal maturation

Chronic ill-health

1.
Congenital heart disease —particularly cyanotic.
2.
Renal failure.
3.
Inflammatory bowel disease * .
4.
Malnutrition.
5.
Rickets * .
6.
Maternal deprivation.

Endocrine disorders

1.
Hypothyroidism —severe retardation (≥5 standard deviations below the mean) with granular, fragmented epiphyses.
2.
Steroid therapy/Cushing's disease —see Part 2 .
3.
Hypogonadism —including older patients with Turner syndrome.
4.
Hypopituitarism —panhypopituitarism, growth hormone deficiency and Laron dwarfism (insensitivity to growth hormone).

Congenital disorders

1.
Chromosome disorders —e.g. trisomy 21, trisomy 18 (severe), Turner syndrome.
2.
Skeletal dysplasias involving the epiphyses —e.g. multiple epiphyseal dysplasia, pseudoachondroplasia, diaphyseal dysplasia, metatropic dysplasia.

Generalized accelerated skeletal maturation

In general, children that display accelerated early skeletal growth will also display earlier closures of their physes and reduced resultant final height.

Endocrine disorders

1.
Idiopathic precocious puberty.
2.
Hypothalamic dysfunction —e.g. due to mass lesions (hamartoma, astrocytoma, craniopharyngioma, optic chiasm glioma), hydrocephalus or encephalitis.
3.
Adrenal and gonadal tumours —e.g. androgen-producing neoplasms.
4.
Hyperthyroidism.

Congenital disorders

1.
McCune-Albright syndrome —polyostotic fibrous dysplasia + precocious puberty.
2.
Cerebral gigantism (Sotos syndrome).
3.
Lipodystrophy.
4.
Pseudohypoparathyroidism *—premature fusion of cone-shaped epiphyses.
5.
Acrodysostosis —premature fusion of cone-shaped epiphyses.

Others

1.
Large or obese children.
2.
Familial tall stature.

Premature closure of a growth plate

1.
Local hyperaemia —juvenile idiopathic arthritides, infection, haemophilia or arteriovenous malformation.
2.
Trauma —especially Salter-Harris fractures.
3.
Vascular occlusion —postmeningococcal septicaemia, infarcts and sickle cell anaemia.
4.
Radiotherapy .
5.
Thermal injury —burns, frostbite.
6.
Multiple exostoses or enchondromatosis.
7.
Hypervitaminosis A —now more commonly via vitamin A analogue treatment for dermatological conditions rather than dietary overdosage.
8.
Skeletal dysplasias —e.g. Albright's hereditary osteodystrophy, acrodysostosis, acromesomelic dysplasia (Maroteaux type) and trichorhinophalangeal syndrome; all with premature fusion of cone-shaped epiphyses in the hand.
9.
Iatrogenic —for leg length discrepancies surgical epiphysiodesis can be performed to artificially fuse or slow the growth of a normal leg to allow the shorter leg to grow.

Asymmetrical maturation

NB: normal children may have minor asymmetry.

Hemihypertrophy or localized gigantism

1.
Vascular anomalies .
- (a)
  Parkes-Weber syndrome —fast-flow vascular malformations with arteriovenous shunting, port-wine stain and limb overgrowth.
- (b)
  Klippel-Trénaunay syndrome *—triad of anomalous veins (varicosities or slow-flow malformations), port-wine stain and limb overgrowth.
- (c)
  Capillary malformation (port-wine stain) —associated with congenital hypertrophy.
2.
Chronic hyperaemia —e.g. juvenile idiopathic arthritides and haemophilia.
3.
Hemihypertrophy —M>F; R>L. May be a presenting feature of Beckwith-Wiedemann syndrome (hemihypertrophy, macroglossia, hypoglycaemia and umbilical hernia). Increased risk of Wilms tumour.
4.
Neurofibromatosis * (NF1) .
5.
Macrodystrophia lipomatosa —bony and fatty overgrowth of one or more digits.
6.
Russell-Silver dwarfism —evident from birth. Triangular face with down-turned corners of the mouth, frontal bossing, asymmetrical growth and skeletal maturation.
7.
Proteus syndrome —hamartomatous disorder with multiple and varied manifestations including vascular and lymphatic malformations, macrocephaly and cranial hyperostosis.
8.
WAGR syndrome —Wilms tumour, aniridia, genitourinary anomalies and mental retardation.

Hemiatrophy or localized atrophy

1.
Paralysis —with osteopenia and overtubulation of long bones.
2.
Radiation treatment in childhood .
3.
Pure venous malformation involving skin, muscle and bone.

Skeletal dysplasias

With predominant metaphyseal involvement

1.
Achondroplasia *—see Part 2 . NB: hypochondroplasia is due to mutations in the same gene, fibroblast growth factor receptor 3, with milder features.
2.
Metaphyseal chondrodysplasias .
- (a)
  Jansen —severe rickets-like changes with short stature.
- (b)
  Schmid —milder than Jansen. Bowed legs.
- (c)
  McKusick —immune deficiency and haematological problems.
- (d)
  Shwachman-Diamond —with pancreatic insufficiency and neutropenia.
- (e)
  Hypophosphatasia —severe forms are lethal. V-shaped metaphyseal defects. Diaphyseal spurs.
- (f)
  Jeune's asphyxiating thoracic dystrophy —short ribs with irregular costochondral junctions, renal cysts and short hands.
- (g)
  Ellis - van Creveld syndrome —short ribs with congenital heart disease and polydactyly.

With predominant epiphyseal involvement

1.
Multiple epiphyseal dysplasia —irregular epiphyseal ossification. Epiphyses may be small and round or flat, depending on type. Normal metaphyses, mild spine changes, mild short stature.
2.
Pseudoachondroplasia —more severe epiphyseal dysplasia with short stature; proportions resemble achondroplasia but with a normal face. Spinal radiographic changes, but usually preserved spinal height.
3.
Diastrophic dysplasia —flattened epiphyses with joint contractures (e.g. club feet) and kyphoscoliosis. Cauliflower ear in infancy. Hypoplastic proximally placed ‘hitch-hiker's’ thumb is characteristic.

Mesomelic dysplasias (short forearms ± shanks)

1.
Dyschondrosteosis (Leri-Weill) —short radius + Madelung deformity and dorsal subluxation of distal ulna.
2.
Langer mesomelic dysplasia —more severe mesomelic shortening.
3.
Acromesomelic dysplasia (Maroteaux type) —short upper limbs with shortening more severe from distal to proximal. Associated spinal abnormalities.

Acromelic dysplasias (short hands and feet)

1.
Pseudo- and pseudopseudo-hypoparathyroidism —metacarpal ± phalangeal shortening. Soft-tissue/basal ganglia calcifications and exostoses in some.
2.
Brachydactyly types A–E —abnormal hands and feet only.
3.
Acrodysostosis —very short metacarpals and phalanges with cone epiphyses. Similar to acromesomelic dysplasia on imaging.
4.
Trichorhinophalangeal syndrome —multiple short phalanges with cone epiphyses. Sparse hair and typical facial appearances. Type 2 associated with exostoses.

Dysplasias with major involvement of the spine

1.
Type 2 collagen disorders —includes spondyloepiphyseal dysplasia congenita, Kniest and Stickler type 1. Delayed appearance of epiphyseal ossification centres with progressive platyspondyly and spinal deformity. Associated ear and eye problems and micrognathia in many. Hands and feet near normal.
2.
Metatropic dysplasia —‘changing form’. In infancy manifests as short-limbed dysplasia, evolving into short spine dysplasia over childhood. Epiphyseal ossification delay with marked metaphyseal flare. Characteristic pattern of platyspondyly with wide flat vertebral bodies. Some patients have a tail. Spondylometaphyseal dysplasia (Kozlowski type) is a milder form.

Lethal neonatal dysplasia

1.
Thanatophoric dysplasia —short ribs; severe platyspondyly with wafer-thin vertebral bodies; small square iliac wings; severe limb shortening. Curved femora and humeri (‘telephone handle’) in type 1; craniosynostosis in type 2.
2.
Osteogenesis imperfecta type 2 —deficient skull ossification; numerous fractures resulting in crumpled long bones and beaded ribs.
3.
Achondrogenesis —absent or poor ossification, especially of vertebral bodies; small chest; very short long bones.
4.
Hypochondrogenesis —milder form of achondrogenesis, but still lethal.
5.
Short rib polydactyly syndromes —extremely short ribs; polydactyly in most with variable acromesomelic shortening depending on type.
6.
Fibrochondrogenesis —short long bones with metaphyseal flaring and diamond-shaped vertebrae.
7.
Campomelic dysplasia —bowed femora and tibiae. Deficient ossification of thoracic pedicles and severe hypoplasia of scapular blades are most characteristic features. Eleven ribs.
8.
Chondrodysplasia punctata —see Section 14.15 .
9.
Lethal hypophosphatasia —severely deficient skull ossification. Absent pedicles in spine. Missing bones. Variable metaphyseal defects. Some bones look normal.

Conditions exhibiting dysostosis multiplex

Whereas dysplasia refers to abnormal bone growth and can change in distribution over time, dysostosis refers to abnormal bone formation in early pregnancy and the distribution of involved bones remains static. Dysostosis multiplex is a constellation of findings, which are seen totally or partially in a number of lysosomal storage diseases. These findings include:

(a)
Abnormal bone texture.
(b)
Large skull vault with calvarial thickening.
(c)
J-shaped sella + poor pneumatization of paranasal sinuses.
(d)
Odontoid hypoplasia + atlantoaxial subluxation.
(e)
Anterior beak of upper lumbar vertebrae + gibbus deformity.
(f)
Inferior tapering of iliac bones + steep acetabula + coxa valga.
(g)
Widened diaphyses, e.g. ribs (oar-shaped), clavicles, small tubular bones.
(h)
Tilting of distal radius and ulna towards each other.
(i)
Pointing of the proximal ends of the metacarpals.

Diseases exhibiting dysostosis multiplex include:

1.
Mucopolysaccharidoses *—see Part 2 .
2.
Mucolipidoses types I–III .
3.
Fucosidosis types I and II.
4.
GM1 gangliosidosis.
5.
Mannosidosis.
6.
Aspartylglucosaminuria.

Generalized increased bone density

NB: infants in the first few months of life can exhibit ‘physiological’ bone sclerosis which regresses spontaneously.

Dysplasias

1.
Osteopetrosis —diffuse bony sclerosis due to reduced osteoclast activity, with a ‘bone-in-bone’ appearance and ‘rugger jersey’ spine. Increase risk of fractures.
2.
Pyknodysostosis —short stature, hypoplastic lateral ends of clavicles, hypoplastic terminal phalanges, bulging cranium and delayed closure of the anterior fontanelle.
3.
Dysosteosclerosis —thought to be an osteoclast-poor form of osteopetrosis in infancy, but does not cause ‘bone-in-bone’ appearance. Progressive spinal involvement with endplate irregularity, and marked undertubulation of long bones with submetaphyseal lucencies.
4.
Progressive diaphyseal dysplasia (Camurati-Engelmann syndrome) —diffuse symmetrical cortical thickening in diaphyses of long bones (especially femur and tibia) ± skull or spine involvement.
5.
Melorheostosis —undulating periosteal ± endosteal hyperostosis with a characteristic ‘dripping candle wax’ appearance. Involves one or more bones in a single limb, in a sclerotomal distribution.
6.
Wnt-pathway disorders —including endosteal hyperostosis, hyperostosis corticalis generalisata, sclerosteosis and osteopathia striata.

Metabolic

1.
Renal osteodystrophy *—rarely renal osteodystrophy causes bone sclerosis, typically seen as a ‘rugger jersey’ spine. Oxalosis may also cause renal failure and bone sclerosis.

Poisoning

1.
Lead —dense metaphyseal bands. Cortex and flat bones may also be slightly dense. Modelling deformities later, e.g. flask-shaped femora.
2.
Fluorosis —more common in adults. Thickened cortex at the expense of the medulla. Periosteal reaction. Ossification of ligaments, tendons and interosseous membranes.
3.
Hypervitaminosis D —slightly increased density of skull and vertebrae early, followed later by osteoporosis. Soft-tissue calcification. Dense metaphyseal bands and widened zone of provisional calcification.
4.
Chronic hypervitaminosis A —not <1 year of age. Cortical thickening of long and tubular bones, especially in the feet. Subperiosteal new bone. Normal epiphyses, reduced metaphyseal density. The mandible is not affected (cf. Caffey's disease).

Idiopathic

1.
Caffey's disease (infantile cortical hyperostosis) —see Section 14.11 .
2.
Idiopathic hypercalcaemia of infancy —probably a manifestation of hypervitaminosis D. Generalized increased density or dense metaphyseal bands. Increased density of skull base.

Paediatric tumours that metastasize to bone

1.
Neuroblastoma .
2.
Leukaemia .
3.
Lymphoma *.
4.
Renal clear cell sarcoma .
5.
Rhabdomyosarcoma .
6.
Retinoblastoma.
7.
Ewing sarcoma —lung metastases much more common.
8.
Osteosarcoma —lung metastases much more common.

‘Moth-eaten bone’ in a child

See figure in Section 1.15 .

Neoplastic

1.
Neuroblastoma metastases .
2.
Leukaemia —consider when there is diffuse involvement of an entire bone or a neighbouring bone with low T1 and high T2/STIR signal on MRI.
3.
Long bone sarcomas —Ewing sarcoma and osteosarcoma.
4.
Lymphoma of bone .
5.
Langerhans cell histiocytosis (LCH) *.

Infective

1.
Acute osteomyelitis .

Periosteal reactions—bilaterally symmetrical in children

1.
Normal infants —diaphyseal, not extending to the growth plate, bilaterally symmetrical and a single lamina. Frequently involves femur, tibia and humerus. Very unusual >4 months of age. A mimicker of trauma; sometimes difficult to differentiate from child abuse when seen incidentally on skeletal survey.
2.
Juvenile idiopathic arthritis *—in ~25% of cases. Most common in the periarticular regions of phalanges, metacarpals and metatarsals. When it extends into the diaphysis it will eventually result in enlarged, rectangular tubular bones.
3.
Acute leukaemia —associated with prominent metaphyseal bone resorption ± a dense zone of provisional calcification. Osteopenia. Metastatic neuroblastoma can look identical.
4.
Rickets *—the presence of uncalcified subperiosteal osteoid mimics a periosteal reaction because the periosteum and ossified cortex are separated.
5.
Caffey's disease —first evident <5 months of age. Mandible, clavicles and ribs show cortical hyperostosis and a diffuse periosteal reaction. The scapulae and tubular bones are affected less often and tend to be involved asymmetrically.
6.
Scurvy *—subperiosteal haemorrhage is most frequent in the femur, tibia and humerus. Periosteal reaction is particularly evident in the healing phase. Age ≥6 months.
7.
Prostaglandin E ₁ therapy —in infants with ductus-dependent congenital heart disease. Severity is related to duration of therapy. Other features include pseudowidening of cranial sutures and bone-in-bone appearance.
8.
Congenital syphilis *—an exuberant periosteal reaction can be due to infiltration by syphilitic granulation tissue (diaphyseal) or healing of osteochondritis by callus (metaphyseal-epiphyseal junction).

Syndromes and bone dysplasias featuring multiple fractures

With reduced bone density

1.
Osteogenesis imperfecta .
2.
Rickets *—usually only in presence of severe rachitic change and clear demineralization.
3.
Hypophosphatasia .
4.
Juvenile idiopathic osteoporosis —2–4 years duration, age of onset 2–13 years.
5.
Gerodermia osteodysplastica —osteopenia and wormian bones associated with wrinkly skin (cutis laxa) and hip dislocation.
6.
Osteoporosis-pseudoglioma syndrome —blindness in infancy + bony fragility.
7.
Mucolipidosis II —osteopenia and periosteal ‘cloaking’ in infancy, evolving into dysostosis multiplex.
8.
Cushing's syndrome.

With normal bone density

1.
Cleidocranial dysplasia *.
2.
Fibrous dysplasia .

With increased bone density

1.
Osteopetrosis .
2.
Pyknodysostosis —see Section 14.8 .

Pseudarthrosis in a child

1.
Nonunion of a fracture —including pathological fracture.
2.
Congenital —in the mid-lower third of the tibia ± fibula. 50% present in the first year. Later there may be cupping of the proximal bone end and pointing of the distal bone end.
3.
Neurofibromatosis *—identical to congenital tibial pseudarthrosis.
4.
Osteogenesis imperfecta .
5.
Cleidocranial dysplasia *—congenitally in the femur.
6.
Fibrous dysplasia.
7.
Proximal focal femoral deficiency —at the site of the femoral defect.

‘Bone within a bone’ appearance

1.
Normal neonate —especially in the spine.
2.
Growth arrest/recovery lines .
3.
Bisphosphonate therapy —similar to growth arrest lines.
4.
Osteopetrosis .
5.
Sickle cell anaemia.
6.
Gaucher disease*.
7.
Heavy metal poisoning.
8.
Prostaglandin E ₁ therapy —see Section 14.11 .

Irregular or stippled epiphyses

1.
Normal —particularly in the distal femur.
2.
Avascular necrosis —single, e.g. Perthes' disease (although 10% are bilateral), or multiple, e.g. sickle cell anaemia.
3.
Congenital hypothyroidism —not present at birth. Delayed appearance and growth of ossification centres. Appearance varies from slightly granular to fragmentation. The femoral capital epiphysis may be divided into inner and outer halves.
4.
Morquio syndrome —irregular ossification of the femoral capital epiphyses results in flattening.
5.
Multiple epiphyseal dysplasia —see Section 14.5 .
6.
Meyer dysplasia —resembles multiple epiphyseal dysplasia but limited to the femoral heads.
7.
Chondrodysplasia punctata —punctate calcifications of developing epiphyses in fetus and infant which resolve in first few years of life, with disturbance of growth of affected bones. Cause may be genetic or maternal during pregnancy (e.g. mixed connective tissue disease, hyperemesis gravidarum, vitamin K deficiency and warfarin embryopathy).
8.
Trisomy 18 and 21.
9.
Prenatal infections.
10.
Zellweger syndrome (cerebrohepatorenal syndrome).
11.
Fetal alcohol syndrome —mostly calcaneum and lower extremities.

Solitary radiolucent metaphyseal band

Apart from point 3, this is a nonspecific sign which represents a period of poor endochondral bone formation.

1.
Normal neonate .
2.
Any severe illness .
3.
Metaphyseal fracture —especially in nonaccidental injury. Depending on the radiographic projection there may be the additional appearance of a ‘corner’ or ‘bucket-handle’ fracture.
4.
Healing rickets *.
5.
Leukaemia, lymphoma * or metastatic neuroblastoma .
6.
Congenital infections .
7.
Intrauterine perforation.
8.
Scurvy*.

Alternating radiolucent and dense metaphyseal bands

1.
Growth arrest lines —Harris or Park lines.
2.
Bisphosphonate therapy —‘zebra stripes’ appearance.
3.
Rickets *—especially those types that require prolonged treatment such as vitamin D-dependent rickets.
4.
Osteopetrosis .
5.
Chemotherapy.
6.
Chronic anaemias —sickle cell and thalassaemia.
7.
Treated leukaemia.

Solitary dense metaphyseal band

1.
Normal infants .
2.
Lead poisoning —dense line in the proximal fibula is said to differentiate from normal. Other poisons include bismuth, arsenic, phosphorus, mercury fluoride and radium.
3.
Radiation .
4.
Congenital hypothyroidism .
5.
Osteopetrosis.
6.
Hypervitaminosis D.

Dense vertical metaphyseal lines

1.
Congenital rubella —celery stalk appearance. Less commonly in congenital CMV.
2.
Osteopathia striata —± exostoses.
3.
Hypophosphatasia.
4.
Localized metaphyseal injury.

Fraying of metaphyses

1.
Rickets *.
2.
Hypophosphatasia —similar features as rickets.
3.
Chronic stress —in the wrists of young gymnasts; wide, irregular, asymmetrical widening of the distal radial growth plate and metaphyseal sclerosis.
4.
Copper deficiency.

Cupping of metaphyses

Often associated with fraying.

1.
Normal —especially distal ulna and proximal fibula of young children. No fraying.
2.
Rickets *—with widening of the growth plate and fraying.
3.
Trauma —to the growth plate/metaphysis. Localized changes.
4.
Bone dysplasias —e.g. achondroplasia, pseudoachondroplasia, metatropic dwarfism, diastrophic dwarfism, the metaphyseal chondrodysplasias, hypophosphatasia.
5.
Scurvy *—usually after fracture.
6.
Menkes disease —Copper deficiency can have similar appearances.

Erlenmeyer flask deformity

An Erlenmeyer flask is a wide-necked glass container used in chemical laboratories. The shape of the flask is used to describe the distal expansion of the long bones, particularly the femora, which is observed in a number of sclerosing skeletal dysplasias and other afflictions of bone.

Dysplasias

1.
Osteopetrosis —in infantile and juvenile forms. Particularly striking in the similar disorder of dysosteosclerosis.
2.
Craniotubular disorders —e.g. metaphyseal dysplasia, craniometaphyseal dysplasia, craniodiaphyseal dysplasia, progressive diaphyseal dysplasia.
3.
Others —otopalatodigital syndrome type 1, Melnick-Needles syndrome and frontometaphyseal dysplasia.

Haematological

1.
Thalassaemia *.

Depositional disorders

1.
Gaucher disease *.
2.
Niemann - Pick disease *.

Poisoning

1.
Lead poisoning —thick transverse dense metaphyseal bands are the classic manifestation of chronic infantile and juvenile lead poisoning. There may also be flask-shaped femora, which can persist for years before resolving.

Focal rib lesion (solitary or multiple) in a child

Neoplastic

1.
Metastases —typically neuroblastoma.
2.
Ewing sarcoma —can arise from bone or chest wall (Askin tumour).
3.
Benign —e.g. osteochondroma, enchondroma.
4.
Langerhans cell histiocytosis *.

Nonneoplastic

1.
Healed rib fracture .
2.
Fibrous dysplasia .
3.
Osteomyelitis —bacterial, tuberculous or fungal.

Widening of the symphysis pubis

>10 mm in the newborn, >9 mm at 3 years, >8 mm at 7 years and over.

Acquired

1.
Trauma .
2.
Infection —low-grade osteomyelitis mimics osteitis pubis.

Congenital

With normal ossification

1.
Bladder exstrophy —marked widening; ‘manta ray’ sign.
2.
Cloacal exstrophy.
3.
Epispadias —degree of widening correlates well with severity of epispadias.
4.
Hypospadias.
5.
Imperforate anus with rectovaginal fistula.
6.
Urethral duplication.
7.
Prune-belly syndrome.
8.
Sjögren – Larsson syndrome.
9.
Goltz syndrome.

Poorly ossified cartilage

1.
Cleidocranial dysplasia *.
2.
Achondrogenesis/hypochondrogenesis.
3.
Campomelic dysplasia.
4.
Chondrodysplasia punctata.
5.
Hypophosphatasia.
6.
Congenital hypothyroidism.
7.
Spondyloepiphyseal dysplasia congenita.
8.
Spondyloepimetaphyseal dysplasia.
9.
Pyknodysostosis.
10.
Larsen syndrome.
11.
Wolf-Hirschhorn syndrome.
12.
Chromosome 9(p+) trisomy syndrome.

‘Sheets’ of calcification in a child

1.
Fibrodysplasia ossificans progressiva —manifests in childhood. Initially neck and trunk muscles involved. Short first metacarpal and metatarsal.
2.
Juvenile dermatomyositis .

Differential diagnosis of skeletal lesions in nonaccidental injury*

Disease	Shaft fractures	Abnormal metaphysis	Osteopenia	Periosteal reaction	Comments
Nonaccidental injury	+	+	−	+
Accidental trauma	+	−	−	Callus
Birth trauma	+	±	−	±	Clavicle, humerus and femur are most frequent fractures
Osteogenesis imperfecta	+	±	+	−	Highly unlikely in the absence of blue sclerae, osteopenia, wormian bones, dentinogenesis imperfecta or a relevant family history
Osteomyelitis	−	+	Localized	+	May be multifocal
Rickets	+	+	+	+	↑ Alkaline phosphatase and parathyroid hormone. Fractures in nonmobile infant in absence of florid rachitic change unlikely to be due to vitamin D deficiency
Scurvy	−	+	+	+	Not before 6 months of age
Congenital syphilis	−	+	−	+
Congenital insensitivity to pain	+	+	−	+	Charcot joints
Paraplegia	+	+	+	With fractures	Lower limb changes only
Prostaglandin E ₁ therapy	−	−	−	+
Menkes syndrome	−	+	+	+	Males only. Abnormal hair. Retardation. Wormian bones
Copper deficiency	+	+	+	±	See note ^a

a Copper deficiency: rare. Unlikely in the absence of at least one risk factor: prematurity, total parenteral nutrition, malabsorption or a low-copper diet. Unlikely in full-term infants <6 months of age. Microcytic, hypochromic anaemia. Leukopenia. Normal serum copper and caeruloplasmin do not exclude the diagnosis. Skull fracture never recorded in copper deficiency. Rib fractures only recorded in premature infants.

Platyspondyly in childhood

This sign describes a uniform decrease in the distance between the upper and lower vertebral endplates and should be differentiated from wedge-shaped vertebrae. Platyspondyly may be generalized (all vertebral bodies), multiple (some vertebral bodies) or localized (one vertebral body, i.e. vertebra plana).

Congenital platyspondyly

1.
Thanatophoric dwarfism —inverted ‘U’- or ‘H’-shaped vertebrae with markedly increased disc space/body height ratio. Telephone handle-shaped long bones.
2.
Metatropic dwarfism —flat-appearing vertebral bodies, but large disc spaces mean that overall spinal height is near normal in infancy. As childhood progresses, relative spinal height reduces.
3.
Osteogenesis imperfecta —type IIA.
4.
Homozygous achondroplasia.

Platyspondyly in later childhood

1.
Morquio syndrome .
2.
Spondyloepiphyseal dysplasia congenita/tarda.
3.
Kniest syndrome.

Acquired platyspondyly

1.
Scheuermann's disease —irregular endplates and Schmorl's nodes in the thoracic spine of children and young adults. Disc-space narrowing. May progress to a severe kyphosis.
2.
Langerhans cell histiocytosis *—the spine is more frequently involved in eosinophilic granuloma and Hand-Schüller-Christian disease than in Letterer-Siwe disease. The thoracic and lumbosacral spine are the usual sites of disease. Disc spaces are preserved.
3.
Osteogenesis imperfecta —multiple spinal compression fractures, resulting in loss of height and spinal deformity.
4.
Sickle cell anaemia —characteristic step-like depression in the central part of the endplates (‘H-shaped’ vertebrae).

Anterior vertebral body beaks

Involves 1–3 vertebral bodies at the thoracolumbar junction, usually associated with a kyphosis. Hypotonia is probably the common denominator, leading to an exaggerated thoracolumbar kyphosis, anterior herniation of the nucleus pulposus and subsequently an anterior vertebral body defect.

1.
Mucopolysaccharidoses *—with platyspondyly in Morquio; this is probably a more useful distinguishing characteristic than the position of the beak (inferior or middle), which is variable.
2.
Achondroplasia *.
3.
Mucolipidoses.
4.
Pseudoachondroplasia.
5.
Congenital hypothyroidism.
6.
Down's syndrome*.
7.
Neuromuscular diseases.

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Retarded skeletal maturation

Chronic ill-health

Endocrine disorders

Congenital disorders

Generalized accelerated skeletal maturation

Endocrine disorders

Congenital disorders

Others

Further reading

Premature closure of a growth plate

Further reading

Asymmetrical maturation

Hemihypertrophy or localized gigantism

Hemiatrophy or localized atrophy

Further reading

Skeletal dysplasias

With predominant metaphyseal involvement

With predominant epiphyseal involvement

Mesomelic dysplasias (short forearms ± shanks)

Acromelic dysplasias (short hands and feet)

Dysplasias with major involvement of the spine

Lethal neonatal dysplasia

Further reading

Conditions exhibiting dysostosis multiplex

Further reading

Generalized increased bone density

Dysplasias

Metabolic

Poisoning

Idiopathic

Further reading

Paediatric tumours that metastasize to bone

‘Moth-eaten bone’ in a child

Neoplastic

Infective

Further reading

Periosteal reactions—bilaterally symmetrical in children

Syndromes and bone dysplasias featuring multiple fractures

With reduced bone density

With normal bone density

With increased bone density

Pseudarthrosis in a child

Further reading

‘Bone within a bone’ appearance

Further reading

Irregular or stippled epiphyses

Solitary radiolucent metaphyseal band

Alternating radiolucent and dense metaphyseal bands

Solitary dense metaphyseal band

Further reading

Dense vertical metaphyseal lines

Fraying of metaphyses

Cupping of metaphyses

Erlenmeyer flask deformity

Dysplasias

Haematological

Depositional disorders

Poisoning

Further reading

Focal rib lesion (solitary or multiple) in a child

Neoplastic

Nonneoplastic

Further reading

Widening of the symphysis pubis

Acquired

Congenital

With normal ossification

Poorly ossified cartilage

Further reading

‘Sheets’ of calcification in a child

Differential diagnosis of skeletal lesions in nonaccidental injury*

Further reading

Platyspondyly in childhood

Congenital platyspondyly

Platyspondyly in later childhood

Acquired platyspondyly

Further reading

Anterior vertebral body beaks

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