Langer-Giedion综合征合并Cornelia de Lange综合征4型1例

doi:10.16352/j.issn.1001-6325.2026.08.1121

基础医学与临床 ›› 2026, Vol. 46 ›› Issue (8): 1121-1125.doi: 10.16352/j.issn.1001-6325.2026.08.1121

Langer-Giedion综合征合并Cornelia de Lange综合征4型1例

张朕杰¹, 杨嘉年¹, 王晨¹, 柳星宇², 马明圣^1*

中国医学科学院北京协和医学院北京协和医院 1.儿科;2.放射科,北京 100730

收稿日期:2025-06-19 修回日期:2025-10-30 出版日期:2026-08-05 发布日期:2026-07-22
通讯作者: ^*mamingsheng@pumch.cn
基金资助:
国家重点研发计划(2023YFC2706304); 首都卫生发展科研专项(2020-1-4071)

A case of Langer-Giedion syndrome combined with Cornelia de Lange syndrome type 4

ZHANG Zhenjie¹, YANG Jianian¹, WANG Chen¹, LIU Xingyu², MA Mingsheng^1*

1. Department of Pediatrics; 2. Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China

Received:2025-06-19 Revised:2025-10-30 Online:2026-08-05 Published:2026-07-22
Contact: ^*mamingsheng@pumch.cn

摘要/Abstract

摘要： 目的报道并分析1例Langer-Giedion综合征(LGS)合并Cornelia de Lange综合征4型(CdLS4)患儿的临床特点,并结合文献复习,提高对连续基因缺失综合征临床表型及鉴别诊断的认识。方法回顾性分析2024年10月就诊于北京协和医院儿科的1例LGS合并CdLS4患者的临床资料,并检索相关文献进行复习。结果患儿为8岁男童,主要临床特点为特殊面容(浓眉、轻度连眉,长睫毛,招风耳,鼻梁宽大,鼻尖肥大,人中长,上唇薄)、语言发育迟缓、智力障碍、多发性骨软骨瘤、骨骼发育异常。基因检测示染色体8q23.3-q24.12区域存在约2.2Mb拷贝数杂合缺失变异,涉及RAD21、EXT1和TRPS1基因,为致病变异。诊断为Langer-Giedion综合征合并Cornelia de Lange综合征4型。文献回顾发现,当缺失同时涉及上述多个基因时,患者可出现两种综合征的重叠表型,临床早期仅依赖表型难以区分,存在漏诊或误诊风险。结论 LGS与CdLS4在临床表型上存在部分重叠,连续基因缺失可导致多种综合征表型叠加。通过基因检测可明确诊断,避免误诊。本病例提示在发育迟缓伴多发畸形的患儿中,应高度重视基因学检测,并在多学科团队协作下制定个体化长期管理方案。

关键词: Langer-Giedion综合征, Cornelia de Lange综合征4型, 基因突变

Abstract: Objective To report and analyze the clinical characteristics of a child with Langer-Giedion syndrome (LGS) combined with Cornelia de Lange syndrome type 4 (CdLS4), and to review the literature in order to improve understanding of the clinical phenotypes and differential diagnosis of contiguous gene deletion syndromes. Methods A retrospective analysis was conducted on the clinical data of one patient with LGS co-occurring with CdLS4 who was admitted to the Department of Pediatrics, Peking Union Medical College Hospital in October 2024. Relevant literature was also reviewed. Results The patient was an 8-year-old boy whose main clinical features included characteristic facial appearance (thick eyebrows, mild synophrys, long eyelashes, prominent ears, broad nasal bridge, bulbous nasal tip, long philtrum, and thin upper lip), language developmental delay, intellectual disability, multiple osteochondromas, and skeletal abnormalities. Genetic testing revealed a heterozygous copy number deletion of approximately 2.2 Mb in chromosome 8q23.3-q24.12, involving the RAD21, EXT1, and TRPS1 genes, which was classified as pathogenic. He was diagnosed with Langer-Giedion syndrome combined with Cornelia de Lange syndrome type 4. Literature review showed that when deletions involve multiple genes in this region, patients may present overlapping phenotypes of both syndromes. In the early stages, reliance solely on clinical manifestations makes differentiation difficult, leading to a risk of misdiagnosis or delayed diagnosis. Conclusions LGS and CdLS4 share partially overlapping clinical phenotypes, and contiguous gene deletions can result in combined manifestations of multiple syndromes. Genetic testing enables definitive diagnosis and helps avoid misdiagnosis. This case highlights the importance of comprehensive genetic evaluation in children with developmental delay and multiple congenital anomalies, and the need for individualized long-term management plans under multidisciplinary collaboration.

Key words: Langer-Giedion syndrome, Cornelia de Lange syndrome type 4, gene mutation

中图分类号:

R394.3

张朕杰, 杨嘉年, 王晨, 柳星宇, 马明圣. Langer-Giedion综合征合并Cornelia de Lange综合征4型1例[J]. 基础医学与临床, 2026, 46(8): 1121-1125.

ZHANG Zhenjie, YANG Jianian, WANG Chen, LIU Xingyu, MA Mingsheng. A case of Langer-Giedion syndrome combined with Cornelia de Lange syndrome type 4[J]. Basic & Clinical Medicine, 2026, 46(8): 1121-1125.

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Langer-Giedion综合征合并Cornelia de Lange综合征4型1例

A case of Langer-Giedion syndrome combined with Cornelia de Lange syndrome type 4

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