كليدوكرانيال ديسپلازي در نوزاد

Cleidocranial dysplasia syndrome in a newborn

Cleidocranial dysplasia is a rare congenital bone formation inherited as an autosomal dominant trait. The incidence is one per 200000 live births. Major symptoms include delayed ossification of the skull, excessively large fontanels and clavicular hypoplasia or aplasia, allowing the shoulders in front of the chest. Delayed eruption of teeth, high arched palate and wide pelvic joint may also be present. The case was a newborn boy who had admitted in neonatal ward of Ekbatan hospital because of respiratory distress. Anterior and posterior fontanels were completely large and connected. His shoulders were a little depressed. Chest X ray revealed bilateral clavicular agenesia and skull X-ray failed to demonstrate vortex bone.