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| A rare case of Silver-Russell syndrome in adult and literature review |
| LU Pei-ying1,2, GU Wei1, PANG Xiao-hong1, SHAN Peng-fei1 |
1. Department of Endocrinology, the Second Affiliate Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China;
2. Department of Internal Medicine, The Branch of Zhejiang Hospital, Hangzhou 310030, China |
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Abstract Silver-Russell syndrome (SRS) is a rare genetic disorder with non-specific manifestations and severity, so that the clinical diagnosis of SRS remains difficult. We reported a 23-year-old female patient with SRS characterized with short body stature, asymmetry, obesity, fifth finger clinodactyly and dislocation of hip. The patient had a past history of lengthening operation on the right lower limb at the age of 10. Chromosome analysis revealed (46, XX). The patient was admitted due to severe asymmetry in low extremities caused by right-side obesity. After successful orthopedic surgery in the right hips and thighs the symptoms of patient were relieved.
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Received: 06 November 2014
Published: 25 May 2015
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成人Silver-Russell综合征1例并文献复习
Silver-Russell 综合征是罕见遗传性疾病,临床表现异质性大,故诊断困难。1例成人女性Silver-Russell 综合征患者,以身材矮小、肢体不对称伴右侧肥胖、第五手指弯斜和髋关节脱位为主要临床表现,染色体检测提示(46,XX)。患者10岁时曾行右下肢延长手术。入院时肢体不对称伴右侧肥胖影响肢体功能,入院后行右侧臀部和大腿整形术,术后运动功能好转。
关键词：
综合征,
染色体畸变,
染色体缺失,
染色体,
人,
7对,
外科,
整形,
病例报告
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| [1] GALLI-TSINOPOULOU A, EMMANOUILIDOU E, KARAGIANNI P, et al. A female infant with Silver Russell syndrome, mesocardia and enlargement of the clitoris [J]. Hormones (Athens), 2008, 7(1):77-81.
[2] 黄书越,巩纯秀,赵 旸,等. 35例Silver-Russell 综合征临床特点分析总结[J].中华内分泌代谢杂志,2014,30(2):119-122. HUANG Shu-yue, GONG Chun-xiu, ZHAO Yang, et al. A clinical study of 35 cases of Silver-Russell syndrome [J]. Chinese Journal of Endocrinology and Metabolism,2014,30(2):119-122. (in Chinese)
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[8] BARTHOLDI D, KRAJEWSKA-WALASEK M, OUNAP K, et al. 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]. J Med Genet, 2009,46(3):192-197.
[9] WOLLMANN H A, KIRCHNER T, ENDERS H, et al.Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients [J]. Eur J Pediatr, 1995,154(12):958-968.
[10] TOUMBA M,ALBANESE A,AZCONA C,et al. Effect of long-term growth hormone treatment on final height of children with Russell-Silver syndrome [J]. Horm Res Paediatr, 2010,74(3):212-217.
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