Familial intestinal malrotation with midgut volvulus and facial anomalies: a disorder involving a gene controlling the normal gut rotation?
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.
Stalker
H J
HJ
Department of Pediatrics, Montreal Children's Hospital, Quebec, Canada.
Chitayat
D
D
D000015:Abnormalities, Multiple / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007415:Intestinal Obstruction / Q000151:congenital*; D007421:Intestine, Small / Q000002:abnormalities*