VACTERL-H associated with central hypothyroidism: A case report
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Tarih
2007
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Medecine Et Hygiene
Erişim Hakkı
info:eu-repo/semantics/closedAccess
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.
Açıklama
Anahtar Kelimeler
VACTERL-H, hydrocephalus, central hypothyroidism, newborn
Kaynak
Genetic Counseling
WoS Q Değeri
Q4
Scopus Q Değeri
N/A
Cilt
18
Sayı
3
Künye
closedAccess
