Prenatal diagnosis of cleidocranial dysostosis

Lewis H. Hamner, Elizabeth L. Fabbri, Paul C. Browne

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)856-857
Number of pages2
JournalObstetrics and Gynecology
Volume83
Issue number5
StatePublished - May 1994

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ASJC Scopus subject areas

  • Obstetrics and Gynecology

Cite this

Hamner, L. H., Fabbri, E. L., & Browne, P. C. (1994). Prenatal diagnosis of cleidocranial dysostosis. Obstetrics and Gynecology, 83(5), 856-857.