Nonsyndromal anencephaly: possible autosomal recessive variant.
The recurrence of anencephaly in families has been explained on a multifactorial basis. We present two unrelated families with three sibships of several nonsyndromal anencephalics including two pairs of concordantly affected like-sex twins. A rare autosomal recessive variant is proposed and inheritance is discussed in view of parental consanguinity among the two affected sibships in one family.
D000757:Anencephaly / Q000235:genetics*; D003241:Consanguinity; D004200:Diseases in Twins; D005260:Female; D005808:Genes, Recessive; D014644:Genetic Variation; D006801:Humans; D007730:Kuwait; D008297:Male; D010375:Pedigree; D012008:Recurrence