Prenatal diagnosis of cleidocranial dysostosis

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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.