Literature DB >> 4470900

Hereditary multiple intestinal atresia.

L Dallaire, G Perreault.   

Abstract

FIVE CASES OF INTESTINAL ATRESIA IN THREE FAMILIES WHO HAD COMMon ancestors are reported. Consanguinity was present in two of the sibships. The lesions were located at multiple sites of the gastrointestinal tract, from the stomach to the anal margin. Intraluminal calcifications were also observed in the intestine. The authors suggest that this well-delineated congenital defect has an autosomal recessive mode of inheritance.

Entities:  

Mesh：

Year:  1974        PMID： 4470900

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN： 0547-6844


  6 in total

1.  [Demographic reproduction and genetic transmission in the north-east of the province of Quebec (18th-20th centuries)].

Authors:  G Bouchard; C Laberge; C R Scriver
Journal:  Eur J Popul       Date:  1988-09

Review 2.  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

3.  A possible association between maternal glomerulonephritis and congenital intestinal atresia/stenosis--a population-based case-control study.

Authors:  Nándor Acs; Ferenc Bánhidy; Erzsébet H Puhó; Andrew E Czeizel
Journal:  Eur J Epidemiol       Date:  2007-06-14       Impact factor: 8.082

4.  Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.

Authors:  Rui Chen; Silvia Giliani; Gaetana Lanzi; George I Mias; Silvia Lonardi; Kerry Dobbs; John Manis; Hogune Im; Jennifer E Gallagher; Douglas H Phanstiel; Ghia Euskirchen; Philippe Lacroute; Keith Bettinger; Daniele Moratto; Katja Weinacht; Davide Montin; Eleonora Gallo; Giovanna Mangili; Fulvio Porta; Lucia D Notarangelo; Stefania Pedretti; Waleed Al-Herz; Wasmi Alfahdli; Anne Marie Comeau; Russell S Traister; Sung-Yun Pai; Graziella Carella; Fabio Facchetti; Kari C Nadeau; Michael Snyder; Luigi D Notarangelo
Journal:  J Allergy Clin Immunol       Date:  2013-07-04       Impact factor: 14.290

5.  Hereditary Multiple Gastrointestinal Atresia associated with Choledochal Cyst: A Rare Entity with Management Dilemma.

Authors:  Raj P; Sinha Sk; Ramji S; Sarin Yk
Journal:  J Neonatal Surg       Date:  2014-07-10

6.  Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.

Authors:  Isabel Fernandez; Natalie Patey; Valérie Marchand; Mirela Birlea; Bruno Maranda; Elie Haddad; Hélène Decaluwe; Françoise Le Deist
Journal:  Medicine (Baltimore)       Date:  2014-12       Impact factor: 1.889
  6 in total

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