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