Holt-Oram综合征的非典型表现:1例报告

IF 1.3 Q3 PEDIATRICS International Journal of Pediatrics Pub Date : 2021-06-01 DOI:10.22038/IJP.2020.53117.4209

A. Panwar, A. Taksande, Syed Athhar Saqqaf, R. Meshram

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引用次数: 18

摘要

Holt-Oram综合征（HOS）是一种常染色体显性遗传疾病，是位于12号染色体（12q24.1）的TBX5基因突变，涉及上肢和心脏，导致房间隔缺损等畸形。在此，我们报告了一例罕见的HOS合并房间隔缺损和室间隔缺损并伴有严重肺动脉高压的三岁儿童。

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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Atypical Presentation of Holt-Oram syndrome: A Case Report

Holt-Oram syndrome (HOS) is an autosomal dominant disorder, a mutation in TBX5 gene located on chromosome 12 (12q24.1) involving the upper limb and the heart, causing malformations like atrial septal defect. Herein, we report a rare case of HOS with atrial septal defect and ventricular septal defect with severe pulmonary arterial hypertension in a three-year-old child.

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来源期刊

International Journal of Pediatrics PEDIATRICS-

CiteScore

3.90

自引率

0.00%

发文量

审稿时长

4 weeks

期刊介绍： International Journal of Pediatrics is a peer-reviewed, open access journal that publishes original researcharticles, review articles, and clinical studies in all areas of pediatric research. The journal accepts submissions presented as an original article, short communication, case report, review article, systematic review, or letter to the editor.