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Heterotaxy-neural tube defect and holoprosencephaly occurring independently in two sib fetuses

✍ Scribed by Bonneau, Dominique; Mar�chaud, Martine; Odent, Sylvie; Piegay, Isabelle; Godard, Alain; Amati, Patrizia

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
20 KB
Volume
84
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19990604)84:4<373::aid-ajmg13>3.0.co;2-8

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✦ Synopsis

We report on two sib fetuses, products of a consanguineous union, who had multiple and apparently unrelated malformations. The first fetus, a female, had trilobed lungs, a single cardiac ventricle, asplenia, situs ambiguus of the liver, and a lumbosacral meningomyelocele. The brain of this fetus was normal. The second fetus, a male, had bilobed lungs, a single cardiac ventricle, situs solitus of the abdominal organs and spleen, and a semilobar holoprosencephaly. The occurrence of these malformations in sibs of different sexes and the parental consanguinity suggest a recessive mutation in a gene responsible for both heterotaxy and midline defects, including holoprosencephaly.

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