VACTERL-H with triphalangeal thumb and hypothyroidism in a female patient
Clinical Dysmorphology, cilt.13, sa.1, ss.29-30, 2004 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 13 Sayı: 1
- Basım Tarihi: 2004
- Doi Numarası: 10.1097/00019605-200401000-00007
- Dergi Adı: Clinical Dysmorphology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.29-30
- Anahtar Kelimeler: Anal atresia, Hydrocephalus, Oesophageal atresia, Primary hypothyroidism, Tracheo-oesophageal fistula, Triphalangeal thumb, VACTERL-H
- Trakya Üniversitesi Adresli: Evet
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. © 2004 Lippincott Williams & Wilkins.