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.
Carvalho
D R
DR
Department of Genetics, School of Medicine of Ribeirão Preto, São Paulo University, Av. Bandeirantes 3900, Ribeirão Preto, SP 14049-900, Brazil.
Giuliani
L R
LR
Simão
G N
GN
Santos
A C
AC
Pina-Neto
J M
JM
D000328:Adult; D000368:Aged; D000505:Alopecia / Q000150:complications; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D004677:Encephalocele / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D005191:Family Characteristics; D005260:Female; D005799:Genes, Dominant; D014644:Genetic Variation; D006801:Humans; D007621:Karyotyping; D008297:Male; D008588:Meningocele / Q000473:pathology; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D012535:Scalp / Q000002:abnormalities*; D013285:Strabismus / Q000150:complications