Literature DB >> 1519649

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

H J Stalker1, D Chitayat.   

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.

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Year:  1992        PMID: 1519649     DOI: 10.1002/ajmg.1320440111

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  6 in total

1.  Monozygotic twins with discordant intestinal rotation.

Authors:  Vance L Smith; Frederick Long; Benedict C Nwomeh
Journal:  Pediatr Radiol       Date:  2006-01-26

2.  Familial malrotation: report of three affected siblings.

Authors:  S Beaudoin; A Mathiot-Gavarin; G Gouizi; F Bargy
Journal:  Pediatr Surg Int       Date:  2005-10-21       Impact factor: 1.827

Review 3.  Review of genetic factors in intestinal malrotation.

Authors:  Vicki Martin; Charles Shaw-Smith
Journal:  Pediatr Surg Int       Date:  2010-06-13       Impact factor: 1.827

4.  Small bowel malrotation in each of a pair of identical twins.

Authors:  J J Crowley; E Bawle
Journal:  Pediatr Radiol       Date:  1996

5.  Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation.

Authors:  Karin Salehi Karlslätt; Maria Pettersson; Nina Jäntti; Przemyslaw Szafranski; Tomas Wester; Britt Husberg; Ulla Ullberg; Pawel Stankiewicz; Ann Nordgren; Johanna Lundin; Anna Lindstrand; Agneta Nordenskjöld
Journal:  Mol Genet Genomic Med       Date:  2019-01-10       Impact factor: 2.183

6.  Heterotopy ("Error loci") of the spiral loop of the ascending colon in cattle.

Authors:  Arcangelo Gentile; Marilena Bolcato; Gianfranco Militerno; Günter Rademacher; André Desrochers; Annamaria Grandis
Journal:  PLoS One       Date:  2019-04-12       Impact factor: 3.240

  6 in total

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