Nonsyndromal anencephaly: Possible autosomal recessive variant
- 30 June 1986
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 24 (3) , 461-464
- https://doi.org/10.1002/ajmg.1320240308
Abstract
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.Keywords
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