VACTERL-H with triphalangeal thumb and hypothyroidism in a female patient

Vatansever U., Basaran U., Guzel A., Acunas B., Balci S.

CLINICAL DYSMORPHOLOGY, vol.13, no.1, pp.29-30, 2004 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 13 Issue: 1
  • Publication Date: 2004
  • Doi Number: 10.1097/01.mcd.0000110535.02258.69
  • Journal Name: CLINICAL DYSMORPHOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.29-30
  • Hacettepe University Affiliated: No

Abstract

The association of vertebral, cardiac, renal, limb anomalies, anal atresia, tracheo-esophageal fistula (VACTERL) with hydrocephalus (VACTERL-H) has recently been described. Both X linked and autosomal recessive forms have been described which are mostly indistinguishable clinically. Here we report a female newborn infant with hydrocephalus detected antenatally, oesophageal atresia with tracheo-oesophageal fistula, anal atresia, renal and vertebral anomalies, and triphalangeal thumb as well as primary hypothyroidism.