Holt-Oram综合症;病例报告

Q4 Medicine
R. Damji, B. Hamel, Yahya Binde, K. Kassim
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引用次数: 0

摘要

Holt-Oram综合征是一种罕见的常染色体显性遗传性疾病,影响上肢轴前放射线、心脏间隔和/或心脏传导。本文描述了一名坦桑尼亚患者Holt-Oram综合征的临床和放射学特征。这个案例强调了对先天性畸形进行适当的产前筛查和父母咨询的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Holt-Oram Syndrome; A Case report
Holt-Oram syndrome is a rare genetic autosomal dominant disorder which affects the preaxial radial ray of the upper limbs and septation of the heart and/or cardiac conduction. The present article describes the clinical and radiological features of Holt–Oram syndrome in a Tanzanian patient. This case emphasises the importance of proper prenatal screening for congenital anomalies and counselling of the parents.    
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来源期刊
Tanzania Journal of Health Research
Tanzania Journal of Health Research Medicine-Medicine (all)
CiteScore
0.20
自引率
0.00%
发文量
20
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