Zhongshan Daxue xuebao. Yixue kexue ban目的分析1例 NSD2 基因突变所致 Rauch-Steindl 综合征（RAUST）患儿的临床特征、生长激素治疗效果及随访情况，提升儿科医生对该病的认识。方法总结2017年4月中山大学孙逸仙纪念医院儿童内分泌专科收治的1例NSD2基因突变所致RAUST综合征患儿的临床特征、基因检测结果、生长激素治疗效果及随访情况并与国内外相关文献对比分析。结果患儿，男，初诊年龄2.9岁，孕36周早产，出生体质量1.7 kg，身长42.0 cm。其临床表现包括宫内生长发育迟缓、语言和运动发育迟缓、极端矮小（82.0 ...
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