Prenatal Diagnosis · 1994 · 18 citations · 4 references
MedicineObstetricsPediatricsNeoplasiaPrenatal DiagnosisBasal Cell CarcinomaCongenital Cranial AnomaliesCongenital Head AnomaliesFetal AnomaliesFetal Anomaly DetectionFetal PathologyAutosomal Dominant InheritanceCalcificationFetal Head UltrasonographyOdontogenic LesionsPrenatal Congenital Anomaly AssessmentSkeletal Abnormalities
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.
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Location of gene for Gorlin syndrome
Peter Farndon, Richard G. Del Mastro, M W Kilpatrick et al. · The Lancet · 1992 · 396 citations