Paediatric Imaging

Cleidocranial dysplasia

a rare congenital defect characterized by deficient ossification of bone, particularly mid line bone formed in membrane. The condition is transmitted as an autosomal dominant trait with widely variable phenotypic expression. The classical site of the abnormality is the clavicle which may show a spectrum of radiographic appearances ranging from hypoplasia of the mid third of clavicular shaft to complete absence of the clavicle. This clavicular dysplasia is most prominent in the lateral aspect of the clavicle. Clinically the shoulders droop forward and are excessively mobile. Children with complete bilateral absence of the clavicle can approximate their shoulders anteriorly (Fig.1). Radiographs may show a range of other abnormalities. The head may be large with frontal bossing, delayed or absent closure of fontanelle (Fig.2) and widened sutures with persistent metopic suture and multiple Wormian bones. Permanent teeth may be delayed in eruption and maldeveloped, the palate may be narrow and high arched and the sinuses hypoplastic. The thorax may be narrow and bell-shaped with incomplete ossification of the sternum. There may be absent or dysplastic pubic bones with resultant pubic diastasis (Fig.3), the iliac bones may also be hypoplastic and the sacroiliac joints widened. Other manifestations of the defective midline ossification may include hemivertebrae and spondylolysis. The radius may be short and the hands and feet may show relatively long second metacarpal and metatarsal, short distal phalanges and accessory or cone shaped epiphyses. Clinical disability is usually minimal and no treatment is required. The children may have mild short stature.

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Fig.1

AP chest radiograph. Note bell-shaped thorax and complete absence of the clavicles.
Cleidocranial dysplasia, Fig.1
Cleidocranial dysplasia, Fig.2
Cleidocranial dysplasia, Fig.3