迪丽胡麻·居来提,罗燕飞,米热古丽·买买提

矮小症是儿童内分泌科的常见就诊病症，其中综合征型矮小症因累及多系统异常且遗传背景复杂，给临床诊断与治疗带来极大挑战。本研究依托104例矮小症患儿的临床数据及遗传学检测结果，系统分析该病症的临床特征与分子遗传学基础。研究队列中，综合征型矮小症主要包含RAS/MAPK通路相关疾病、染色质调控相关疾病、骨骼发育相关疾病及染色体微缺失综合征等类型。不同基因变异引发的矮小表型，在起病时间、面容特点、骨骼表现及合并症上存在差异，对精准诊断与个体化治疗提出不同要求。结合最新文献，本文深入探讨其分子机制、基因型-表型关联及生长激素治疗效果，为临床诊疗提供参考。

综合征型矮小症；遗传学；全外显子组测序；生长激素治疗；基因型-表型关联

[1] Gerhard Binder,Noonan Syndrome,the Ras–MAPK Signalling Pathway and Short Stature.Horm Res,2009 Apr:71 Suppl 2:64-70 [2] Khan N,et al.Turner Syndrome:where are we?[J].Orphanet Journal of Rare Diseases,2024,19:308. [3] Paltoglou G,et al.Cephalometric Evaluation of Children with Short Stature of Genetic Etiology:A Review[J].Children,2024,11(7):792. [4] He D,et al.Insights into the ANKRD11 variants and short-stature phenotype through literature review and ClinVar database search[J].Orphanet Journal of Rare Diseases,2024,19:323. [5] Clayton PE,et al.Exploring the spectrum of 3-M syndrome,a primordial short stature disorder of disrupted ubiquitination[J].Clinical Endocrinology,2019,91(5):630-639.

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