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伴有法洛四联症且生存期延长的家族性迪格奥尔格综合征

Familial DiGeorge syndrome with tetralogy of Fallot and prolonged survival.

作者信息

Winter W E, Silverstein J H, Barrett D J, Kiel E

出版信息

Eur J Pediatr. 1984 Jan;141(3):171-2. doi: 10.1007/BF00443218.

Abstract

Two brothers with DiGeorge syndrome had tetralogy of Fallot with pulmonary valve atresia, illustrating similarity of the type of congenital heart disease (CHD) within affected families; the specific type of CHD differs between families. The late recognition of hypocalcemia in the older brother and his survival to age 21 years emphasizes the need to consider. DiGeorge syndrome in patients of all ages with hypocalcemia and congenital heart disease.

摘要

两名患有22q11.2缺失综合征(DiGeorge syndrome)的兄弟患有法洛四联症伴肺动脉瓣闭锁,这表明在受影响的家庭中先天性心脏病(CHD)类型具有相似性;不同家庭的CHD具体类型有所不同。哥哥低钙血症的晚期诊断以及他活到21岁强调了对于所有年龄患有低钙血症和先天性心脏病的患者都需要考虑22q11.2缺失综合征。

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