VACTERL-H associated with central hypothyroidism: A case report

Aliefendioglu D., Bademci G., Keskil S., Somuncu S., Misrlioglu E., Cakmak A. M.

GENETIC COUNSELING, vol.18, no.3, pp.331-335, 2007 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 18 Issue: 3
  • Publication Date: 2007
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.331-335
  • Bezmialem Vakıf University Affiliated: No


VACTERL-H associated with central hypothyroidism: A case report: The VACTERL-14 syndrome is a rare combination of vertebral anomalies, anal atresia, congenital heart defects, tracheo-esophageal fistula, abnormalities of kidneys and limb anomalies together with hydrocephalus. This condition is recognized as a hereditary entity with poor prognosis. We present a newborn weighing 3400 g, born by cesarean section to a 27 years old mother who had had an irregular antenatal follow-up. The patient had severe hydrocephalus, proximal esophageal atresia and distal tracheoesophageal fistula, gastric outlet obstruction, imperforated anus and recto-urethral fistula, patent ductus arterious, a bifid scrotum, a vertebral defect, sacral dimple and central hypothyroidism. The patient had no limb defects. The association of central hypothyroidism and VACTER-L-H has previously not been reported.