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Prenatal Sonographic Diagnosis of Cleidocranial Dysostosis
Author(s) -
Hassan Jamiyah,
Sepulveda Waldo,
Teixeira Jeronima,
Garrett Christine,
Fisk Nicholas M.
Publication year - 1997
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199708)17:8<770::aid-pd124>3.0.co;2-#
Subject(s) - dysostosis , medicine , prenatal ultrasound , cleidocranial dysplasia , prenatal diagnosis , congenital disease , anatomy , pregnancy , fetus , surgery , genetics , biology , supernumerary
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. © John Wiley & Sons, Ltd.