title: Prenatal sonographic diagnosis of cleidocranial dysostosis.
abstract: Cleidocranial dysostosis is an autosomal dominant disorder characterized by absence or hypoplasia of the clavicles, skull abnormalities, and abnormal dentition. The prenatal diagnosis of this condition has been reported once previously in a known high-risk pregnancy. In this report we describe the prenatal findings of cleidocranial dysostosis at 19 weeks' gestation in a woman affected with this disorder but undiagnosed before the fetal scan. This report is unique in the sense that an autosomal dominant condition diagnosed in the fetus led to a similar diagnosis in the mother.
authors.affiliation: Centre for Fetal Care, Royal Postgraduate Medical School, Queen Charlotte's and Chelsea Hospital, London, U.K.
authors.forename: J
authors.initials: J
authors.lastname: Hassan
authors.forename: W
authors.initials: W
authors.lastname: Sepulveda
authors.forename: J
authors.initials: J
authors.lastname: Teixeira
authors.forename: C
authors.initials: C
authors.lastname: Garrett
authors.forename: N M
authors.initials: NM
authors.lastname: Fisk
mesh_terms: D000328:Adult; D002896:Chromosomes, Human, Pair 6; D002973:Cleidocranial Dysplasia / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D005865:Gestational Age; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D016216:Ultrasonography, Prenatal