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Gorlin syndrome (naevoid basal cell carcinoma syndrome): Prenatal detection in a fetus with macrocephaly and ventriculomegaly |
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| Authors: | W. Allen Hogge M.D. Carol Blank Linda B. Roochvarg Joan S. Hogge Eric A. Wulfsberg Leslie J. Raffel |
| Affiliation: | 1. Department of Pediatrics, University of Maryland, Baltimore, MD, U.S.A.;2. Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, U.S.A.;3. Division of Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, U.S.A. |
| Abstract: | The Gorlin (naevoid basal cell carcinoma) syndrome is an autosomal dominant disorder consisting principally of naevoid basal cell carcinomas, odontogenic keratocysts, skeletal abnormalities, and intracranial calcification. We report the prenatal detection of the Gorlin syndrome by ultrasonography in a fetus with macrocephaly and mild ventriculomegaly. |
| Keywords: | Gorlin syndrome naevoid basal cell carcinoma prenatal diagnosis macrocephaly ventriculomegaly |