鲁宾斯坦-泰比综合征肺结核1例

Balakrishnan Menon, Bhumika Aggarwal
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引用次数: 0

摘要

鲁宾斯坦-泰比综合征是一种罕见的遗传性疾病,其特征是智力缺陷、拇指和脚趾宽、身材矮小和特征面部特征。该综合征与编码creb结合蛋白基因(CREBBP)的16p13.3位点的微缺失有关。大多数报道的鲁宾斯坦-泰比综合征是散发性的,没有孟德尔遗传的确凿证据。我们报告一例26岁男性患者的鲁宾斯坦-泰比综合征与肺结核。过去曾有文献提到该综合征患者发生呼吸道感染。一些患有这种罕见综合征的患者会出现呼吸系统、进食系统和心血管系统的全身性问题。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Pulmonary tuberculosis in a case of Rubinstein–Taybi syndrome

Rubinstein–Taybi syndrome is a rare genetic disease characterized by mental deficiency, broad thumbs and toes, short stature, and characteristic facial features. The syndrome has been linked to microdeletion at 16p13.3 encoding CREB-binding protein gene (CREBBP). Most reported cases of Rubinstein–Taybi syndrome are sporadic, with no firm evidence of Mendelian inheritance. We report a case of a 26-year-old male patient of Rubinstein–Taybi syndrome with pulmonary tuberculosis. The occurrence of respiratory infections in patients with this syndrome has been mentioned in the past. Systemic problems involving the respiratory system, feeding and the cardiovascular system have been noted in some individuals with this rare syndrome.

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