新生儿Prader-Willi综合征13例临床表型分析

摘要

目的 分析Prader-Willi综合征(PWS)新生儿期的临床表现,为临床早期筛选及进一步行分子诊断提供帮助.方法 回顾性分析2009年8月至2011年8月在北京军区总医院附属八一儿童医院依据MS-PCR和MS-MLPA方法确诊为PWS患儿的诊断、分型和临床表型资料,分析中国PWS新生儿期典型特征.结果 13例PWS进入分析,男9例,女4例,确诊年龄4～28 d.足月儿10例,早产儿2例,过期产儿1例.孕母高龄9例(69.2%),羊水污染8例(61.5%),羊水过多3例(23.1%),胎膜早破5例(38.5%),异常胎位4例(30.8%),宫内窘迫9例(69.2%).9例为父源性15q11.2-q13区域缺失致病,4例为母源性同源二倍体.4例母源性同源二倍体患儿均可见中枢性肌张力低下和皮肤色素减退,吸吮缓慢2例(50.0%)、哭声微弱3例(75.0%)、男性隐睾1例(25.0%)、女性小阴唇3例(75.0%);均未见特殊面容和唾液黏稠,均不需特殊喂养.9例父源性15q11.2-q13区域缺失患儿均可见中枢性肌张力低下、皮肤色素减退和哭声微弱,吸吮缓慢2例(22.2%)、需特殊喂养7例(77.8%)、特殊面容5例(55.6%)、男性隐睾7例(77.8%)、阴茎短小4例(44.4%)、女性小阴唇1例(11.1%)、唾液黏稠5例(55.6%).结论 母源性同源二倍体患儿的特殊面容和男性生殖器发育不全的发生率低于父源性15q11.2-q13区域缺失患儿.新生儿期皮肤色素减退及中枢性肌张力低下是中国PWS新生儿普遍存在的特征,可作为进一步行PWS分子诊断的初步筛选指标.%Objective To summarize the clinical phenotype charateristics of Prader-Willi syndrome in neonates for screening earlier and making further molecular genetic diagnosis for appropriate patients. Methods The data from thirteen Prader-Willi syndrome neonates that had been definitely diagnosed with molecular biological methods from August 2009 to August 2011 were collected retrospectively. For each patient, the presence or absence of the major and minor features according to the diagnostic criteria was recorded. The typical clinical phenotype of Chinese neonates with Prader-Willi syndrome was analyzed. Results A total of 13 neonates diagnosed as Prader-Willi syndrome were recruited in the study, including 9 males and 4 females. The age of onset was 4-28 days. Nine cases were caused by deletion of 15q11. 2 - ql3 from the paternal and 4 cases were caused by maternal uniparental disomy. The major phenotype in neonatal period included skin hypo pigment at ion in 13 cases ( 100% ) which was significantly different from abroad, and central hypotonia in 13 cases ( 100% ), hypogonadism in 12 cases (92. 3% ), weak cry in 12 cases ( 92. 3% ), feeding difficulty in 11 cases ( 84. 6% ); minor phenotypes included characteristic facial features in 5 cases ( 38. 5% ), thick viscous saliva in 5 cases ( 38. 5% ). In addition, older mothers'age was found in 9 cases( 69. 2% ); amniotic fluid contaminated in 8 cases( 61. 5% ), hydramnios in 3 cases( 23. 1% ), premature rupture of membrane in 5 cases( 38. 5% ), anomal fetal position in 4 cases( 30. 8% ), intrauterine embarrassment in 9 cases( 69. 2% ), all these were dangerous in perinatal period between mother and fetus. Conclusions Skin hypopigmentation and central hypotonia in neonatal period could be taken as the preliminary screening criteria and Prader-Willi syndrome molecular genetic test should be performed for Chinese neonates.