title: Heterotaxy-neural tube defect and holoprosencephaly occuring independently in two sib fetuses.
abstract: 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.
authors.affiliation: Service de Génétique, CHU de Poitiers, France. bonneau@chu.univ-poitiers.fr
authors.forename: D
authors.initials: D
authors.lastname: Bonneau
authors.forename: M
authors.initials: M
authors.lastname: Maréchaud
authors.forename: S
authors.initials: S
authors.lastname: Odent
authors.forename: I
authors.initials: I
authors.lastname: Piegay
authors.forename: A
authors.initials: A
authors.lastname: Godard
authors.forename: P
authors.initials: P
authors.lastname: Amati
mesh_terms: D005260:Female; D005315:Fetal Diseases / Q000235:genetics*; D016142:Holoprosencephaly / Q000235:genetics*; D006801:Humans; D008297:Male; D009436:Neural Tube Defects / Q000235:genetics*