Hereditary Multiple Intestinal Atresia

Overview

Journal Birth Defects Orig Artic Ser

Date 1974 Jan 1

PMID 4470900

Citations 8

Authors

L DALLAIRE

G Perreault

Affiliations

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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.

Citing Articles

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Busolin A, Vely F, Eymard-Duvernay G, Barlogis V, Fabre A Intractable Rare Dis Res. 2024; 13(2):89-98.

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

P R, Sk S, S R, Yk S J Neonatal Surg. 2015; 3(3):39.

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

Fernandez I, Patey N, Marchand V, Birlea M, Maranda B, Haddad E Medicine (Baltimore). 2014; 93(29):e327.

PMID: 25546680 PMC: 4602622. DOI: 10.1097/MD.0000000000000327.

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

Chen R, Giliani S, Lanzi G, Mias G, Lonardi S, Dobbs K J Allergy Clin Immunol. 2013; 132(3):656-664.e17.

PMID: 23830146 PMC: 3759618. DOI: 10.1016/j.jaci.2013.06.013.

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia.

Samuels M, Majewski J, Alirezaie N, Fernandez I, Casals F, Patey N J Med Genet. 2013; 50(5):324-9.

PMID: 23423984 PMC: 3625823. DOI: 10.1136/jmedgenet-2012-101483.