VACTERL-H with triphalangeal thumb and hypothyroidism in a female patient
Küçük Resim Yok
Tarih
2004
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Lippincott Williams & Wilkins
Erişim Hakkı
info:eu-repo/semantics/closedAccess
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.
Açıklama
Anahtar Kelimeler
VACTERL-H, Oesophageal Atresia, Tracheo-Oesophageal Fistula, Anal Atresia, Triphalangeal Thumb, Hydrocephalus, Primary Hypothyroidism, Hydrocephalus, Association, Brothers, Family
Kaynak
Clinical Dysmorphology
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
13
Sayı
1
