Familial intestinal malrotation with midgut volvulus and facial anomalies: a disorder involving a gene controlling the normal gut rotation?

Am J Med Genet. 1992 Sep 1;44(1):46-7. doi: 10.1002/ajmg.1320440111.

Abstract

We report on 2 sisters with congenital midgut volvulus. Both had similar facial changes different from those of their parents and the other 2 unaffected sibs. Both parents had normal barium meal roentgenograms. The occurrence of these abnormalities in sibs born to parents with apparently normal gastrointestinal tract anatomy suggest autosomal recessive inheritance, although a coincidence, multifactorial or autosomal dominant inheritance with nonpenetrance in either of the parents cannot be excluded.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Face / abnormalities*
  • Female
  • Genes, Recessive
  • Humans
  • Infant, Newborn
  • Intestinal Obstruction / congenital*
  • Intestine, Small / abnormalities*