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Silver-Russell综合征伴生长激素缺乏症和青春期发育过快1例

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摘要 Silver-Russell综合征(SRS)主要以生长发育落后、左右侧身体不对称、异常面容为临床表现的疾病。我院儿科曾收治SRS伴生长激素缺乏症(GHD)和青春期发育过快1例,现报道如下:1病历摘要患儿女,9岁11个月,因“发现身材矮小9余年,双乳肿大半年”于2019年8月6日入院。患儿9余年前发现身材矮小,较同龄儿发育慢,近两年增高5~6cm,无慢性头痛、恶心呕吐或视物模糊,无腹痛、尿频、尿痛,运动和智力无明显落后,学习成绩佳,否认有反复发热、腹泻或其他慢病史,孕35+5周经剖宫产娩出,出生体重1.6kg(<-2SD),其胞妹出生体重2.9kg(目前生长发育正常)。
作者 邹国斌
出处 《中国乡村医药》 2020年第20期47-47,共1页
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  • 1Silver HK,Kiyasu W,George J. Syndrome of congenital hemihypertrophy,shortness of stature,and elevated urinary gonadotrophins[J].PEDIATRICS,1953.368-375.
  • 2Russell A. A syndrome of intra-uterined warfism recognizable at birth with craniofacial dysostosis,disproportionately short arms and other anomalies[J].Proceedings of the Royal Society of Medicine,1954.1040-1044.
  • 3Silver HK. Asymmetry,short stature,and variations in sexual development[J].American Journal of Diseases of Children,1964.495-513.
  • 4Ferry RJ Jr. Silver Russell syndrome[M].New York:Medscape,2011.
  • 5Wong KF,Wong WW,Li BX. The first case of Silver-Russell syndrome accompanied by linea albahernia in China[J].Singapore Medical Journal,2010.e9-e11.
  • 6Wakeling EL,Amero SA,Alders M. Epigenotype-phenotype correlations in Silver-Russell syndrome[J].Journal of Medical Genetics,2010.760-768.
  • 7Price S M,Stanhope R,Garrett C. The spectrum of Silver-Russell syndrome:a clinical and molecular genetic study and new diagnostic criteria[J].Journal of Medical Genetics,1999.837-842.
  • 8Netchine I,Rossignol S,Dufourg MN. 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome:clinical scoring system and epigeneticphenotypic correlations[J].Journal of Clinical Endocrinology and Metabolism,2007.3148-3154.
  • 9Bartholdi D,Krajewska-Walasek M,Ounap K. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS):results from a large cohort of patients with SRS and SRS-like phenotypes[J].Journal of Medical Genetics,2009.192-197.
  • 10陈名道;郁忠勤;张达青.Russell-Silver综合征合并糖尿病一例报告[J]中华内分泌代谢杂志,1987118.

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