中华内分泌代谢杂志
中華內分泌代謝雜誌
중화내분비대사잡지
CHINESE JOURNAL OF ENDOCRINOLOGY AND METABOLISM
2014年
2期
119-122
,共4页
黄书越%巩纯秀%赵旸%吴迪%曹冰燕
黃書越%鞏純秀%趙旸%吳迪%曹冰燕
황서월%공순수%조양%오적%조빙연
Silver Russell综合征%诊断标准%临床特征
Silver Russell綜閤徵%診斷標準%臨床特徵
Silver Russell종합정%진단표준%림상특정
Silver Russell syndrome%Diagnostic criteria%Clinical manifestation
目的 分析总结35例Silver-Russell综合征临床特征,提高对本病临床特点的认识.方法 回顾性分析北京儿童医院内分泌科近6年用3种不同诊断标准获得的35例患者临床资料,总结主要临床症状,比较不同诊断标准的一致性.结果 不同诊断标准获得的0.08 ～ 12.15岁患者35例,男23例,女12例.三条标准都符合的占77％(27/35),符合其中两条标准的占97％ (34/35).主诉分别为矮小33例(94.2％),外生殖器异常1例(2.9％),肢体不对称1例(2.9％).出现率80％以上的最具有诊断意义症状体征是小于胎龄儿(SGA)、严重矮小(平均身高-3.61 SDS)和显著体瘦(体重指数＜-2.11 SDS)；骨骼畸形:三角脸、齿列不齐、肢体不对称和小指侧弯.骨龄平均落后-1.4岁；其中60％骨龄落后1岁以上.且身高落后较骨龄落后更明显.结论 Silver Russell综合征患者的临床诊断主要依靠临床表现,生化无特异性;不同诊断标准获得的35例患者诊断一致性高.出现率80％以上的最具有诊断意义表现是严重矮瘦、SGA、颅面三角畸形、齿列不齐、肢体不对称和小指侧弯.骨龄轻度落后.
目的 分析總結35例Silver-Russell綜閤徵臨床特徵,提高對本病臨床特點的認識.方法 迴顧性分析北京兒童醫院內分泌科近6年用3種不同診斷標準穫得的35例患者臨床資料,總結主要臨床癥狀,比較不同診斷標準的一緻性.結果 不同診斷標準穫得的0.08 ～ 12.15歲患者35例,男23例,女12例.三條標準都符閤的佔77％(27/35),符閤其中兩條標準的佔97％ (34/35).主訴分彆為矮小33例(94.2％),外生殖器異常1例(2.9％),肢體不對稱1例(2.9％).齣現率80％以上的最具有診斷意義癥狀體徵是小于胎齡兒(SGA)、嚴重矮小(平均身高-3.61 SDS)和顯著體瘦(體重指數＜-2.11 SDS)；骨骼畸形:三角臉、齒列不齊、肢體不對稱和小指側彎.骨齡平均落後-1.4歲；其中60％骨齡落後1歲以上.且身高落後較骨齡落後更明顯.結論 Silver Russell綜閤徵患者的臨床診斷主要依靠臨床錶現,生化無特異性;不同診斷標準穫得的35例患者診斷一緻性高.齣現率80％以上的最具有診斷意義錶現是嚴重矮瘦、SGA、顱麵三角畸形、齒列不齊、肢體不對稱和小指側彎.骨齡輕度落後.
목적 분석총결35례Silver-Russell종합정림상특정,제고대본병림상특점적인식.방법 회고성분석북경인동의원내분비과근6년용3충불동진단표준획득적35례환자림상자료,총결주요림상증상,비교불동진단표준적일치성.결과 불동진단표준획득적0.08 ～ 12.15세환자35례,남23례,녀12례.삼조표준도부합적점77％(27/35),부합기중량조표준적점97％ (34/35).주소분별위왜소33례(94.2％),외생식기이상1례(2.9％),지체불대칭1례(2.9％).출현솔80％이상적최구유진단의의증상체정시소우태령인(SGA)、엄중왜소(평균신고-3.61 SDS)화현저체수(체중지수＜-2.11 SDS)；골격기형:삼각검、치렬불제、지체불대칭화소지측만.골령평균락후-1.4세；기중60％골령락후1세이상.차신고락후교골령락후경명현.결론 Silver Russell종합정환자적림상진단주요의고림상표현,생화무특이성;불동진단표준획득적35례환자진단일치성고.출현솔80％이상적최구유진단의의표현시엄중왜수、SGA、로면삼각기형、치렬불제、지체불대칭화소지측만.골령경도락후.
Objective To analyze the clinical features of 35 patients with Silver-Russell syndrome (SRS) in Beijing Children's Hospital in recent 6 years,and to recognize the clinical manifestations and improve the diagnosis of the disease.Methods The diagnostic criteria of SRS were studied retrospectively,the differences among 3 different diagnostic criteria were compared.Results Thirty-five SRS patients were diagnosed by means of 3 criteria,over a period from 2006 to 2012.There were 23 males and 12 females,with age range 0.08 ～ 12.15 yr.77 ％ of cases met the three criteria,97％ met two of the three criteria.There were dwarfism in 33 cases (94.2％),genital abnormalities in 1 case (2.9％),and asymmetry of limbs in 1 case (2.9％).The clinical characteristics with the frequencies accounting for over 80％ included short stature (average height-3.61 SDS),leanness (body mass index ＜-2.11SDS),bone dysmorphism including triangular face,irregular teeth,asymmetry of limbs,clinodactyly of fifth finger,and bone age obviously lagged behind.60％ of the cases showed bone age lagging behind more than 1 year.Height lagging behind was more obviously then bone age.Conclusions The diagnosis of SRS is mainly based on Clinical manifestation,laboratory and biochemical examinations are of no avail.There is a high coincidence with the 3 different diagnostic criteria.Clinical features in more than 80％ patients with SRS are short stature,craniofacial triangular dysmorphism,irregular teeth,limbs asymmetry and fifth finger clinodactyly,and mild lagging behind of bone age.
