Cleidocranial dysplasia: a rare case associated with congenital hypothyroidism and severe neonatal hyperbilirubinemia.

Abstract

Cleidocranial dysplasia is an autosomal dominant disorder affecting skeletal ossification and tooth development. This disorder can be rarely associated with blood, intestinal and vascular anomalies. There has been no case reported in previous literature that discusses this disorder in association with congenital hypothyroidism and severe neonatal hyperbilirubinemia. Herein, we report on a 4-year-old boy who in an outpatient clinic was diagnosed as having cleidocranial dysplasia, with defective ossification over bilateral hypoplastic clavicles, narrowed thoracic cage on chest x-ray and prominent wormian bones over the lambdoid sutures on skull x-ray. Physical examination revealed a 4-fb wide open anterial fontanel, frontal bossing and malalignment of teeth. He was a primpara with birth weight of 2350 gm and gestation age of 33 weeks. He had received blood exchange transfusion on the 4th postnatal day at Ping-Tong Christian Hospital because of severe neonatal hyperbilirubinemia. Congenital hypothyroidism was diagnosed on the 10th day. He was then treated with thyroxine and transferred to our hospital. Thyroid scan revealed diffusely decreased radioactivity in bilateral lobes of the thyroid gland. According to out clinic findings at his regular follow ups, with continued use of thyroxine supplement, he now has a normal thyroid function and has a body length of about 50 percentile.