Gorlin syndrome (naevoid basal cell carcinoma syndrome): prenatal detection in a fetus with macrocephaly and ventriculomegaly.
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.
Hogge
W A
WA
Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, PA.
Blank
C
C
Roochvarg
L B
LB
Hogge
J S
JS
Wulfsberg
E A
EA
Raffel
L J
LJ
D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000000981:diagnostic imaging* / Q000196:embryology; D002552:Cerebral Ventricles / Q000000981:diagnostic imaging / Q000196:embryology; D005260:Female; D006257:Head / Q000000981:diagnostic imaging / Q000196:embryology; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D016216:Ultrasonography, Prenatal