Silver-Russell综合征病例报道一例并文献复习

目的通过报道罕见的Silver-Russell综合征病例1例,并文献复习,了解该疾病的研究进展。方法对1例Silver-Russell综合征患儿的临床表现、实验室检查进行观察与分析并复习相关文献。结果确诊Silver-Russell综合征1例。结论 Silver-Russell综合征临床极少见,临床有遇到（1）宫内及生后生长发育迟缓;（2）典型面部特征：相对巨颅、三角脸等;（3）躯体不对称畸形;（4）喂养困难的患儿应警惕本病可能。本疾病临床表现非特异性,临床诊断困难,对高度可疑本病的患儿应行基因检查,一旦确诊应尽早采取重组人生长激素（GH）替代治疗等综合治疗,以改善患儿生存质量。

Russell-Silver syndrome case report and literature review

Objective： Understand the research progress of Silver-Russell syndrome by reporting one case of this rare disease. Methods： Analysed the clinical manifestations and clinical laboratory examination of this case of Silver - Russell syndrome patient and reviewed the related literatures. Results： Clinical diagnosis one case of Silver - Russell syndrome. Conclusion： Russell- Silver syndrome is a rare disease, the children who with （1） fetal growth retardation and postnatal growth retardation; （2） typical facial characteristics： relative macrocephaly, triangular face, etc; （3） body asymmetry deformity; （4） feeding difficulties should be considered this disease.As many of these features are nonspecific, clinical diagnosis of SRS remains difficult. The children who suspected the disease should be taken genetic test once diagnosed, the Comprehensive Treatment, recombinant human growth hormone replacement therapy, should be taken to improve the quality of life as soon as possible.