中华儿科杂志
中華兒科雜誌
중화인과잡지
Chinese Journal of Pediatrics
2013年
3期
216-220
,共5页
朱铭强%巩纯秀%吴迪%黄书越%曹冰燕
硃銘彊%鞏純秀%吳迪%黃書越%曹冰燕
주명강%공순수%오적%황서월%조빙연
Silver Russell综合征%临床特点%诊断标准
Silver Russell綜閤徵%臨床特點%診斷標準
Silver Russell종합정%림상특점%진단표준
Silver Russell syndrome%Clinical features%Diagnostic criteria
目的 总结Silver Russell综合征患儿的临床特点及遗传特点,提高对该病的认识及诊断的准确性.方法 回顾性分析2006-2011年以Price评分系统临床诊断为Silver Russell综合征的20例患儿的临床特点及遗传分析结果.结果 20例中男15例,女5例,年龄1个月~12岁2个月.生后持续矮小20例(100%),颅面畸形20例(100%),小于胎龄儿19例(95%),肢体细而不对称18例(90%),先天性小指侧弯16例(80%),体质指数(BMI)<-2标准差积分16例(80%),骨龄平均落后1.2岁,身高标准差积分/骨龄落后平均值的比值为3.08.因外生殖器异常就诊的2例积极手术治疗,均未行生长激素治疗.6例使用生长激素0.1IU/(kg·d)治疗,2例身高增长达到8~11 cm/年,2例<5 cm/年.16例中8例染色体11p15印记缺陷:单纯11p15区ICR1低甲基化6例;染色体11p15区ICR1低甲基化及ICR2超甲基化1例;另1例为母系染色体11p15重复.结论 Silver Russell综合征临床表现多样,以小于胎龄儿和(或)生后持续矮小,颅面畸形,肢体不对称伴四肢细,先天性小指侧弯为特征,严重低BMI,身高落后程度较骨龄落后程度更明显.部分患儿可检测到染色体11p15印记缺陷.可尝试使用生长激素改善身高.
目的 總結Silver Russell綜閤徵患兒的臨床特點及遺傳特點,提高對該病的認識及診斷的準確性.方法 迴顧性分析2006-2011年以Price評分繫統臨床診斷為Silver Russell綜閤徵的20例患兒的臨床特點及遺傳分析結果.結果 20例中男15例,女5例,年齡1箇月~12歲2箇月.生後持續矮小20例(100%),顱麵畸形20例(100%),小于胎齡兒19例(95%),肢體細而不對稱18例(90%),先天性小指側彎16例(80%),體質指數(BMI)<-2標準差積分16例(80%),骨齡平均落後1.2歲,身高標準差積分/骨齡落後平均值的比值為3.08.因外生殖器異常就診的2例積極手術治療,均未行生長激素治療.6例使用生長激素0.1IU/(kg·d)治療,2例身高增長達到8~11 cm/年,2例<5 cm/年.16例中8例染色體11p15印記缺陷:單純11p15區ICR1低甲基化6例;染色體11p15區ICR1低甲基化及ICR2超甲基化1例;另1例為母繫染色體11p15重複.結論 Silver Russell綜閤徵臨床錶現多樣,以小于胎齡兒和(或)生後持續矮小,顱麵畸形,肢體不對稱伴四肢細,先天性小指側彎為特徵,嚴重低BMI,身高落後程度較骨齡落後程度更明顯.部分患兒可檢測到染色體11p15印記缺陷.可嘗試使用生長激素改善身高.
목적 총결Silver Russell종합정환인적림상특점급유전특점,제고대해병적인식급진단적준학성.방법 회고성분석2006-2011년이Price평분계통림상진단위Silver Russell종합정적20례환인적림상특점급유전분석결과.결과 20례중남15례,녀5례,년령1개월~12세2개월.생후지속왜소20례(100%),로면기형20례(100%),소우태령인19례(95%),지체세이불대칭18례(90%),선천성소지측만16례(80%),체질지수(BMI)<-2표준차적분16례(80%),골령평균락후1.2세,신고표준차적분/골령락후평균치적비치위3.08.인외생식기이상취진적2례적겁수술치료,균미행생장격소치료.6례사용생장격소0.1IU/(kg·d)치료,2례신고증장체도8~11 cm/년,2례<5 cm/년.16례중8례염색체11p15인기결함:단순11p15구ICR1저갑기화6례;염색체11p15구ICR1저갑기화급ICR2초갑기화1례;령1례위모계염색체11p15중복.결론 Silver Russell종합정림상표현다양,이소우태령인화(혹)생후지속왜소,로면기형,지체불대칭반사지세,선천성소지측만위특정,엄중저BMI,신고락후정도교골령락후정도경명현.부분환인가검측도염색체11p15인기결함.가상시사용생장격소개선신고.
Objective To improve the accuracy of the diagnosis of the disease on the basis of the clinical features and genetic characteristics of patients with Silver Russell syndrome (SRS).Method Patients diagnosed with SRS by Price criteria in 2006 to 2011 were reviewed for their clinical manifestations,physical signs,laboratory examinations and treatments.Result Twenty cases with SRS were 0.08-12.17 yr old.Fifteen were male and 5 were female.The clinical characteristics included more than 80% of cases had postnatal growth retardation 100% (20/20),craniofacial dysmorphism 100% (20/20),small for gestation age 95% (19/20),asymmetry and thinning of the face and/or limbs 90% (18/20),fifth finger clinodactyly 80% (16/20),BMI <-2 SDS 80% (16/20).Their height was obviously lagging behind in the bone age.HD SDS/average of bone retardation was 3.08.The two patients with the chief complaint of external genital abnormalities would have aggressive surgical treatment and they did not use the growth hormone (GH) treatment.Only six patients had used the GH treatment.GH treatment at a dose of 0.1 IU/ (kg · d) used in 2 cases achieved a growth velocity (GV) 8-11 cm/yr but in another 2 cases < 5 cm/yr.In genetic study,6 patients were found to have 11p15 low methylation,1 had low and high methylation,1 had duplication,no relation between clinical and methylation of 11 p15 was found.Conclusion There were great variations of clinical features in SRS characterized by small for gestation age and/or postnatal growth retardation,craniofacial dysmorphism,asymmetry of the face and/or limbs or ultrafine limbs,fifth finger clinodactyly.Severely low BMI was seen and height was obviously lagging behind in the bone age.The findings of laboratory tests and imaging of SRS were not specific.Some of SRS had 11p15 imprinting defects.The treatment of SRS is mainly symptomatic.