Images in Medicine - Cleidocranial Dysplasia

A 14-year-old boy presented with proportionate short stature (height 140 cm; Upper segment: Lower segment: 0.9:1), macrocephaly (head circumference 59.5cm), brachycephaly and prominent forehead. He had hypertelorism, depressed nasal bridge, mid-face hypoplasia (excluding malar region), narrow high-arched palate, delayed tooth eruption, enamel hypoplasia, long neck, narrow sloping shoulders, scoliosis, narrow thorax and absent clavicles (Figure 1). His hands had asymmetric length of fingers. He had conductive deafness and normal intelligence quotient. Chest X-ray revealed a narrow thorax with oblique ribs and absent clavicles (Figure 2). His CT head was normal. X-ray of skull revealed calvarial thickening especially over the occiput and incomplete development of the accessory sinuses. Other radiological findings included scoliosis without any associated vertebral anomalies, long second metacarpal, short middle phalanges of second and fifth fingers and short, tapering distal phalanges of both hands. A diagnosis of cleidocranial dysplasia was made.