VACTERL Association: A New Case with Biotinidase Deficiency and Annular Pancreas

Sezer R. G., Aydemir G., Bozaykut A., Paketci C., Aydinoz S.

RENAL FAILURE, vol.34, no.1, pp.123-125, 2012 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 34 Issue: 1
  • Publication Date: 2012
  • Doi Number: 10.3109/0886022x.2011.623491
  • Journal Name: RENAL FAILURE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.123-125
  • Keywords: hydroureteronephrosis, VACTERL association, tracheoesophageal fistula, anal atresia, biotinidase deficiency, esophageal atresia
  • Dokuz Eylül University Affiliated: No

Abstract

VACTERL (V - Vertebral anomalies, A - Anal atresia, C - Cardiovascular anomalies, T - Tracheoesophageal fistula, E - Esophageal atresia, R - Renal (Kidney) and/or radial anomalies, L - Limb defects) association includes vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal dysplasia, and limb anomalies. Less frequent defects seen with VACTERL association are prenatal and postnatal growth deficiency, laryngeal stenosis, ear anomaly, large fontanels, defect of lower limb, rib anomaly, tethered cord, and defects of external genitalia. We report a case of VACTERL association who had concomitant biotinidase deficiency and annular pancreas, which has not been previously reported.