Clinical and etiological heterogeneity in patients with tracheo-esophageal malformations and associated anomalies.

Esophageal atresia (EA) is one of the most frequent congenital malformations of the gastrointestinal tract. Many genetic alterations in patients with EA have been described in the literature. It is thought that the etiology of EA is heterogeneous. This review of the literature provides detailed information about chromosomal aberrations, gene mutations, and clinical features of neonates with EA, and serves as an excellent source to compare newly diagnosed patients with those described in the literature.

Hak J

Papers

Trisomy X in a neonate with esophageal atresia