Embryology of oesophageal atresia.
Esophageal atresia (OA) and tracheoesophageal fistula (TOF) are important human birth defects of unknown etiology. The embryogenesis of OA/TOF remains poorly understood, mirroring the lack of clarity of the mechanisms of normal tracheoesophageal development. The development of rat and mouse models of OA/TOF has allowed the parallel study of both normal and abnormal embryogenesis. Although controversies persist, the fundamental morphogenetic process appears to be a rearrangement of the proximal foregut into separate respiratory (ventral) and gastrointestinal (dorsal) tubes. This process depends on the precise temporal and spatial pattern of expression of a number of foregut patterning genes. Disturbance of this pattern disrupts foregut separation and underlies the development of tracheoesophageal malformations.
Ioannides
Adonis S
AS
Clinical Genetics Unit, Great Ormond Street Hospital, London, United Kingdom. A.Ioannides@ich.ucl.ac.uk
Copp
Andrew J
AJ
D000818:Animals; D004195:Disease Models, Animal; D004933:Esophageal Atresia / Q000196:embryology* / Q000235:genetics; D005260:Female; D006801:Humans; D051379:Mice; D011247:Pregnancy; D051381:Rats; D014138:Tracheoesophageal Fistula / Q000196:embryology* / Q000235:genetics