Ahmad Zaheer, Abbas Khwaja Ahmad
Department of Paediatrics, Shifa College of Medicine, Islamabad.
J Coll Physicians Surg Pak. 2004 Nov;14(11):689-90.
A rare association of Down syndrome with hypothyroidism and Morgagni type of diaphragmatic defect is described in a one-year-old male child who presented with a history of recurrent chest infections and delayed milestones. He showed obvious features of Down syndrome but was also found to have hypothyroidism on investigations. Morgagni hernia was suspected on lateral chest X- ray and confirmed by CT scan thorax. He responded well to the management, which included surgical repair of the hernia.
本文描述了一名一岁男童，患有唐氏综合征、甲状腺功能减退症和莫尔加尼型膈肌缺损这一罕见的综合征，该患儿有反复胸部感染病史且发育迟缓。他表现出明显的唐氏综合征特征，但经检查还发现患有甲状腺功能减退症。胸部X线侧位片怀疑有莫尔加尼疝，胸部CT扫描得以确诊。他对包括疝修补手术在内的治疗反应良好。
