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1: Am J Med Genet. 1992 Sep 1;44(1):46-7.Links

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

Stalker HJ, Chitayat D.

Department of Pediatrics, Montreal Children's Hospital, Quebec, Canada.

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.

PMID: 1519649 [PubMed - indexed for MEDLINE]