cleidocranial dysostosis

Last reviewed 01/2018

Cleidocranial dysostosis is inherited in an autosomal dominant manner with a variable degree of expressivity, and is characterised by varying degrees of hypoplasia of membranous bones. Affected bones include the anterior ends of the clavicles, sacral rami, there is delayed closure of the anterior fontanelle. Also multiple wormian bones are often present.

Radiologically there are variable degrees of hypoplasia of the clavicles and scapulae, marked delay in ossification of the pubis and ischiopubic segments. Also there is often widening of the symphysis pubis.