Tracheal agenesis with anomalies found in both VACTERL and TACRD associations

Julie L. Wei, David Rodeberg, Dana M. Thompson*

*Corresponding author for this work

Research output: Contribution to journalArticle

28 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1013-1017
Number of pages5
JournalInternational Journal of Pediatric Otorhinolaryngology
Volume67
Issue number9
DOIs
StatePublished - Jan 1 2003

Keywords

  • Malformation associations
  • TACRD associations
  • Tracheal agenesis
  • VACTER/VACTERL associations

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Otorhinolaryngology

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