Genetic Factors in Isolated and Syndromic Esophageal Atresia

Geneviève, David; de Pontual, Loïc; Amiel, Jeanne; Lyonnet, Stanislas

Journal of Pediatric Gastroenterology & Nutrition. 52():S6-S8, May 2011

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Esophageal and duodenal atresia in a girl with a 12q24.3-qter deletion

Doray B, Becmeur F, Girard-Lemaire F, Schluth C, Flori E.

Clin Genet. 2002 Jun;61(6):468-71.

    

Role of Sonic hedgehog in the development of the trachea and oesophagus

Ioannides AS, Henderson DJ, Spitz L, Copp AJ.
Neural Development Unit and the Surgery Unit, Institute of Child Health, University College London, and the Institute of Human Genetics, University of Newcastle, England.
J Pediatr Surg. 2003 Jan;38(1):29-36.

Backround/Purpose

The secreted glycoprotein, Sonic hedgehog (Shh) plays an important patterning role in the development of many organ systems. The authors aimed to study the temporal and spatial pattern of expression of Shh and its receptor Ptc1 during the development of the anterior foregut and to test the hypothesis that the Shh expression pattern is disturbed during the development of oesophageal atresia (OA) and tracheo-oesophageal fistula (TOF) in Adriamycin-treated mouse embryos.

Lire la suite : Role of Sonic hedgehog in the development of the trachea and oesophagus

A role for sonic hedgehog signaling in the pathogenesis of human tracheoesophageal fistula

Spilde T, Bhatia A, Ostlie D, Marosky J, Holcomb G 3rd, Snyder C, Gittes G.
Department of Surgery, The Laboratory for Surgical Organogenesis, Children's Mercy Hospital, Kansas City, MO.
J Pediatr Surg. 2003 Mar;38(3):465-8.

Background/Purpose

Many theories of the pathogenesis of esophageal atresia with tracheoesophageal fistula (EA/TEF) have been proposed, but no specific mechanism has been demonstrated. The authors previously reported data suggesting a respiratory origin of the fistula tract in the rat model and in humans. Sonic hedgehog (Shh) "knockout" mice have the VACTERL association, and thus it was hypothesized that defects in Shh signaling may exist in the human neonatal EA/TEF fistula tract.

Lire la suite : A role for sonic hedgehog signaling in the pathogenesis of human tracheoesophageal fistula

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