Prenatal diagnosis of cleidocranial dysostosis

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

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

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

ASJC Scopus subject areas

  • Obstetrics and Gynecology

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