Tracheal agenesis with anomalies found in both VACTERL and TACRD associations.
Tracheal agenesis (TA) was diagnosed by endoscopy after esophageal intubation in a 34-week newborn. Diagnosis, work-up, and management approach are discussed. Similar to previous reports, this case of tracheal agenesis presented with multiple associated defects found at autopsy. Tracheal agenesis had previously been reported as a part of the VATER (vertebral defects, anal atresia, tracheoesophageal fistula and/or esophageal atresia, radial dysplasia, renal defects) and VACTERL (VATER plus cardiovascular and limb defects) associations/syndromes. More recently, cases of TA have been reported with associated anomalies described as TACRD (tracheal agenesis/atresia, complex congenital cardiac abnormalities, radial ray defects, and duodenal atresia) association/syndrome. We present a case of TA with anomalies found in both VACTERL and TACRD associations, which support the speculation that both are different manifestations of a spectrum of mesodermal dysplasia.
Wei
Julie L
JL
Division of Pediatric Otolaryngology, Childrens Memorial Hospital, 2300 Childrens Plaza, Box 25, Chicago, IL 60614, USA. jwei@childrensmemorial.org
Rodeberg
David
D
Thompson
Dana M
DM
D000015:Abnormalities, Multiple / Q000473:pathology*; D001344:Autopsy; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D012151:Resuscitation; D014132:Trachea / Q000002:abnormalities*; D014138:Tracheoesophageal Fistula / Q000473:pathology*