CAJ | 학술논문

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。
Silver－Russell종합정시한견유전성질병，림상표현이질성대，고진단곤난。1례성인녀성Silver－Russell 종합정환자，이신재왜소、지체불대칭반우측비반、제오수지만사화관관절탈위위주요림상표현，염색체검측제시（46，XX）。환자10세시증행우하지연장수술。입원시지체불대칭반우측비반영향지체공능，입원후행우측둔부화대퇴정형술，술후운동공능호전。
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 .