Prenatal diagnosis of cleidocranial dysostosis.

Abstract

Cleidocranial dysostosis is an autosomal dominant disorder characterized by absent or hypoplastic clavicles and dysplasia of the osseous tissue in the cranium. We describe the prenatal diagnosis and neonatal evaluation of cleidocranial dysostosis in the pregnancy of a woman also affected with this disorder. The sonographic appearance of absent or hypoplastic clavicles, in the absence of other findings suggesting a skeletal dysplasia, strongly suggests the diagnosis of cleidocranial dysostosis. Nomograms are available to follow the growth and development of normal clavicles. Assessment of normal long-bone growth in relation to clavicular size may aid in the diagnosis.