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作 者:朱铭强[1] 巩纯秀[1] 吴迪[1] 黄书越[1] 曹冰燕[1]
机构地区:[1]首都医科大学附属北京儿童医院内分泌遗传代谢中心,100045
出 处:《中华儿科杂志》2013年第3期216-220,共5页Chinese Journal of Pediatrics
摘 要: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8-11cm/年,2例〈5cm/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。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 llp15 low methylation, 1 had low and high methylation, 1 had duplication, no relation between clinical and methylation of 1 lp15 was found. Conclusion There were great variations of clinical features in SRS characterized by small for gestation age and/or postnatal growth retardation, craniofaeial 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 11 p15 imprinting defects. The treatment of SRS is mainly symptomatic.
关 键 词:SILVER Russell综合征 临床特点 诊断标准
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