A CASE OF SECKEL SYNDROME WITH TRICUSPID ATRESIA
Küçük Resim Yok
Tarih
2014
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
MEDECINE ET HYGIENE
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
A case of Seckel syndrome with tricuspid atresia: Seckel syndrome is an autosomal recessive disease presenting with marked growth retardation, microcephalic dwarfism, some facial and skeletal abnormalities. Tricuspid atresia is a rare and life threatening cyanotic congenital heart diseases, with an incidence of 1% to 3%. It is feature of the anatomically normally related great arteries with a large ventricular septum defect and stenosis of right ventricular outflow tract. Tricuspid atresia has never been reported in patients with Seckel syndrome. Here we report a 15-day-old girl baby diagnosed as having Seckel syndrome with tricuspid atresia.
Açıklama
Anahtar Kelimeler
Seckel syndrome, Tricuspid atresia, Child
Kaynak
GENETIC COUNSELING
WoS Q Değeri
Q4
Scopus Q Değeri
N/A
Cilt
25
Sayı
2
