NEDRIHF综合征或PURA综合征：中枢性张力低下的罕见病因

Q2 Medicine

Medical Journal Armed Forces India Pub Date : 2024-12-01 DOI:10.1016/j.mjafi.2023.08.009

Swati Richa , Aradhana Dwivedi , Subhash Chandra Shaw , Daljit Singh

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引用次数: 0

摘要

神经发育障碍伴新生儿呼吸功能不全、张力低下和进食困难（NEDRIHF）是一种非常罕见的疾病。该病是由于5q31染色体上PURA基因的微缺失引起的。它是新生儿中枢性张力低下的罕见原因之一，引起父母的关注和焦虑。我们报告一例罕见诊断的NEDRIHF-PURA（嘌呤富集结合蛋白A）综合征。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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NEDRIHF syndrome or PURA syndrome : A rare cause of central hypotonia

Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties (NEDRIHF) is a very rarely reported disease. The disease is due to microdeletions in the PURA gene on chromosome 5q31. It is one of the rare causes of central hypotonia in neonates causing parental concern and anxiety. We report one such rarely diagnosed case of NEDRIHF-PURA (purine-richelement-binding protein A) syndrome.

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来源期刊

Medical Journal Armed Forces India Medicine-Medicine (all)

CiteScore

3.40

自引率

0.00%

发文量

206

期刊介绍： This journal was conceived in 1945 as the Journal of Indian Army Medical Corps. Col DR Thapar was the first Editor who published it on behalf of Lt. Gen Gordon Wilson, the then Director of Medical Services in India. Over the years the journal has achieved various milestones. Presently it is published in Vancouver style, printed on offset, and has a distribution exceeding 5000 per issue. It is published in January, April, July and October each year.