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

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

CLINICAL DYSMORPHOLOGY, cilt.13, sa.1, ss.29-30, 2004 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 13 Sayı: 1
  • Basım Tarihi: 2004
  • Doi Numarası: 10.1097/01.mcd.0000110535.02258.69
  • Dergi Adı: CLINICAL DYSMORPHOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.29-30
  • Hacettepe Üniversitesi Adresli: Hayır

Özet

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.