Tracheal agenesis with anomalies found in both VACTERL and TACRD associations.

Abstract

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.

• Authors: Julie L Wei, David Rodeberg, Dana M Thompson
• Journal: International journal of pediatric otorhinolaryngology (Int J Pediatr Otorhinolaryngol) Vol. 67 Issue 9 Pg. 1013-7 (Sep 2003) ISSN: 0165-5876 [Print] Ireland
• PMID: 12907059 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (pathology)
• Autopsy
• Female
• Humans
• Infant, Newborn
• Resuscitation
• Trachea (abnormalities)
• Tracheoesophageal Fistula (pathology)