Thinking of VACTERL-H? Rule out fanconi anemia according to PHENOS

Blanche P. Alter, Neelam Giri

Research output: Contribution to journalArticlepeer-review

Abstract

VACTERL-H association includes three of eight features: vertebral anomalies, anal atresia, congenital heart disease, tracheo-esophageal fistula, esophageal atresia, renal, limb anomalies, and hydrocephalus. The VACTERL-H phenotype among cases with FA is considered to be about 5%; the frequency of FA among patients with VACTERL-H is unknown. We examined 54 patients with FA in the National Cancer Institute Inherited Bone Marrow Failure Syndrome Cohort for features of VACTERL-H, including imaging studies (radiology and ultrasound). Eighteen of the fifty-four patients had three or more VACTERL-H features. The presence of VACTERL-H association in 33% of those with FA is much higher than the previous estimate of 5% (P

Original languageEnglish (US)
JournalAmerican Journal of Medical Genetics, Part A
DOIs
StateAccepted/In press - 2016
Externally publishedYes

Keywords

  • Fanconi anemia
  • VACTERL-H
  • VATER

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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