Noonan syndrome and related disorders
Noonan syndrome and related disorders
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DOI：
10.1016/j.ppedcard.2005.04.008
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发表时间：
2005-07-01
影响因子：
0.9
通讯作者：
Noonan, Jacqueline A.
中科院分区：
文献类型：
--
作者：
Noonan, Jacqueline A.
努南综合征是儿童先天性心脏病常见的多发畸形综合征。最近，PTPN 11基因突变被发现存在于约50%的努南综合征患者中。超过80%的这些患者患有某种形式的先天性心脏病，肺动脉狭窄通常与发育不良的瓣膜相关，到目前为止，这是最常见的病变。肥厚性心肌病的发生率为20- 30%。特征性的面容、胸部畸形、身材矮小、男性隐睾和学习障碍包括努南表型，但有广泛的表型变异和随年龄变化的表型。这种表型在其他几种具有类似心脏缺陷的综合征中也有发现。这些包括LEOPARD、神经纤维瘤病、努南综合征、心-面-皮肤综合征和Costello综合征。婴儿期的明确诊断特别困难。(C)2005爱思唯尔爱尔兰有限公司保留所有权利。
Noonan syndrome is a common multiple malformation syndrome seen in children with congenital heart disease. Recently, a mutation in the PTPN11 gene was found to be present in about 50% of individuals with Noonan syndrome. Over 80% of these patients have some form of congenital heart disease with pulmonary stenosis often associated with a dysplastic valve being, by far, the most common lesion. Hypertrophic cardiomyopathy occurs in 20-30%. Characteristic facies, chest deformity, short stature, undescended testes in the male and learning disabilities comprise the Noonan phenotype but there is wide phenotypic variation and a changing phenotype with age. This phenotype is noted in several other syndromes which share similar cardiac defects. These include LEOPARD, neurofibromatosis, Noonan syndrome, cardio-facio-cutaneous syndrome and Costello syndrome. A definitive diagnosis is particularly difficult in infancy. (C) 2005 Elsevier Ireland Ltd. All rights reserved.