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。...

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Published inZhejiang da xue xue bao. Journal of Zhejiang University. Medical sciences. Yi xue ban Vol. 44; no. 3; pp. 335 - 338
Main Author 卢佩颖 谷卫 庞晓虹 单鹏飞
Format Journal Article
LanguageChinese
English
Published 浙江大学医学院附属第二医院内分泌科，浙江杭州310009 25.01.2015
浙江医院分院内科，浙江杭州310030%浙江大学医学院附属第二医院内分泌科,浙江杭州,310009
Beijing Zhongke Journal Publising Co. Ltd
Subjects
7对
人
外科
整形
染色体
染色体畸变
染色体缺失
病例报告
综合征
外科,整形
综合征
染色体畸变
病例报告
染色体,人,7对
Case reports
Chromosomes,human,pair 7
Surgery,plastic
Chromosome deletion
染色体缺失
Syndrome
Chromosome aberrations
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Summary: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。
Bibliography:33-1248/R
LU Pei-ying, GU Wei, PANG Xiao-hong, SHAN Peng-fei （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）
Syndrome ; Chromosome aberrations ; Chromosome deletion ;Chromosomes, human, pair 7; Surgery, plastic; Case reports
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 .
lupy007@sina.com第一作者：卢佩颖(1979-), 女, 硕士研究生, 主治医师, 主要从事内分泌科工作; E-mail:; http://orcid.org/0000-0001-9009-3164
ISSN:1008-9292
DOI:10.3785/j.issn.1008-9292.2015.05.15