Hogge W A, Blank C, Roochvarg L B, Hogge J S, Wulfsberg E A, Raffel L J
Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, PA.
Prenat Diagn. 1994 Aug;14(8):725-7. doi: 10.1002/pd.1970140813.
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.
戈林(痣样基底细胞癌)综合征是一种常染色体显性疾病,主要由痣样基底细胞癌、牙源性角化囊肿、骨骼异常和颅内钙化组成。我们报告了一例通过超声产前检测出患有戈林综合征的胎儿,该胎儿存在巨头畸形和轻度脑室扩大。