Autosomal dominant atretic cephalocele with phenotype variability: Report of a Brazilian family with six affected in four generations

Atretic cephalocele is a clinicopathological entity, which is different from the common form of cephalocele. its etiopathogenesis has not been completely explained and there are only two previous reports of familial recurrence. We report a Brazilian family with autosomal dominant inheritance with variable expressivity. (c) 2006 Wiley-Liss, Inc.