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Hamner Lewis H. MD; Fabbri, Elizabeth L. RNC; Browne, Paul C. MD
Obstetrics & Gynecology: May 1994
Prenatal diagnosis of cleidocranial dysostosis: PDF Only

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.(Obstet Gynecol 1994;83:856-7)

© 1994 The American College of Obstetricians and Gynecologists