VACTERL-H associated with central hypothyroidism: A case report


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

GENETIC COUNSELING, cilt.18, ss.331-335, 2007 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 18 Konu: 3
  • Basım Tarihi: 2007
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayısı: ss.331-335

Özet

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.