产前过度生长与羊水过多：你会考虑努南综合征吗？
Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?
作者信息
Beltrami Benedetta, Cerasani Jacopo, Consales Alessandra, Villa Roberta, Resta Nicoletta, Loconte Daria Carmela, Boito Simona, Caschera Luca, Bassi Laura, Colombo Lorenzo, Iascone Maria, Bedeschi Maria Francesca
机构信息
Medical Genetics Unit Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico Milan Italy.
Neonatal Intensive Care Unit (NICU), Department of Clinical Science and Community Health Università degli Studi di Milano and Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.
出版信息
Clin Case Rep. 2022 Aug 22;10(8):e6256. doi: 10.1002/ccr3.6256. eCollection 2022 Aug.
We report on a child with prenatal findings of increased nuchal translucency, polydramnios, ascites, and overgrowth. At birth, she presented length >97° centile, minor facial anomalies, megalencephaly, and Wolff-Parkinson-White syndrome. Whole-exome sequencing showed a pathogenic variant in the gene, but no mutations were found in pathway genes.
我们报告了一名产前检查发现颈部半透明带增厚、羊水过多、腹水和胎儿过度生长的患儿。出生时，她的身长大于第97百分位，有轻微面部异常、巨头畸形和预激综合征。全外显子组测序显示该基因存在致病性变异，但在相关通路基因中未发现突变。
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