Tracheal agenesis and associated malformations: a comparison with tracheoesophageal fistula and the VACTERL association.
Tracheal agenesis is a rare malformation of the lower respiratory tract. Investigation of a patient with multiple congenital anomalies and tracheal agenesis prompted a review of the literature which uncovered 42 previously published cases, most of whom had other defects. The presence in our patient of a tracheal abnormality in association with radial hypoplasia, single umbilical artery, tetralogy of Fallot, and left hydroureter initially suggested presence of the VACTERL association. However, numerical classification of malformation patterns in the reported patients with tracheal agenesis and in a series of patients with tracheoesophageal fistula and other components of the VACTERL association suggests that tracheal agenesis does not occur in the VACTERL association and may be part of another pattern of malformations which includes laryngeal atresia, complex congenital heart anomalies, radial ray defects, and duodenal atresia.
D000015:Abnormalities, Multiple / Q000145:classification / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011884:Radius / Q000002:abnormalities; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000235:genetics; D014132:Trachea / Q000002:abnormalities*; D014138:Tracheoesophageal Fistula / Q000235:genetics*; D014469:Umbilical Arteries / Q000002:abnormalities; D014513:Ureter / Q000002:abnormalities