A CASE OF SECKEL SYNDROME WITH TRICUSPID ATRESIA

作者：Arslan D^*; Cimen D; Guvenc O; Sert A; Oktay A; Oran B

来源：Genetic Counseling, 2014, 25(2): 171-175.

• Seckel syndrome
• Tricuspid atresia
• Child

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.

• 出版日期2014