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

Am J Med Genet. 1999 Jun 4;84(4):373-6. doi: 10.1002/(sici)1096-8628(19990604)84:4<373::aid-ajmg13>3.0.co;2-8.

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.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Fetal Diseases / genetics*
  • Holoprosencephaly / genetics*
  • Humans
  • Male
  • Neural Tube Defects / genetics*