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Prenatal diagnosis of cleidocranial dysostosis
L H Hamner1, E L Fabbri, P C Browne
1Department of Gynecology and Obstetrics, Emory University School of Medicine, Atlanta, Georgia.
Background:
Cleidocranial dysostosis is an autosomal dominant disorder characterized by absent or hypoplastic clavicles and dysplasia of the osseous tissue in the cranium.
Case:
We describe the prenatal diagnosis and neonatal evaluation of cleidocranial dysostosis in the pregnancy of a woman also affected with this disorder.
Conclusion:
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.