中国循证儿科杂志2012，Vol.7Issue(3)：200-204,5.DOI:10.3969/j.issn.1673-5501.2012.03.009
新生儿Prader-Willi综合征13例临床表型分析
Clinical phenotype study of Prader-Willi syndrome in 13 neonates
詹实娜 1何玺玉 2王春枝 1杨尧 2王艳 2吴虹林 2李昊2
作者信息
- 1. 安徽医科大学研究生院,合肥,230032
- 2. 北京军区总医院附属八一儿童医院临床遗传中心,北京,100700
- 折叠
摘要
Abstract
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.关键词
Prader-Willi综合征/临床表型/肌张力低下/皮肤色素减退Key words
Prader-Willi syndrome/Clinical phenotype/Hypotonia/Skin hypopigmentation引用本文复制引用
詹实娜,何玺玉,王春枝,杨尧,王艳,吴虹林,李昊..新生儿Prader-Willi综合征13例临床表型分析[J].中国循证儿科杂志,2012,7(3):200-204,5.
