A rare case of 2q37 deletion syndrome presented with patent foramen ovale.

一例罕见的 2q37 缺失综合征伴卵圆孔未闭。

• 发表时间: 2023 Nov
• 来源期刊: Clin Case Rep
• DOI: 10.1002/ccr3.6970
• PMID: 38028106
• 文章类型: Case Reports
• 作者列表: Zaki A,Shaheen N,Hosny M,Ramadan A,Nashwan AJ

关键词: 2q37 deletion syndrome; cardiac anomalies; chromosome 2; comparative genomic hybridization; patent foramen ovale; single nucleotide polymorphism

Abstract

This case report presents a 3-year-old female child diagnosed with 2q37 deletion syndrome and patent foramen ovale, and the improvement in hypotonia and gross motor delay after 1 year of physical therapy. This case highlights the importance of thorough examination and diagnostic testing in identifying underlying causes of developmental delays.

摘要

该病例报告介绍了一名3岁的女性儿童，诊断为2q37缺失综合征和卵圆孔未闭，理疗1年后低张力和粗大运动延迟的改善。此案例强调了彻底检查和诊断测试在确定发育迟缓的根本原因方面的重要性。