Clinical Manifestations of Noonan Syndrome and Related Disorders.

4区医学 Q2 Medicine

Pediatric endocrinology reviews : PER Pub Date : 2019-05-01 DOI:10.17458/per.vol16.2019.bm.clinicalnoonan

Margo Sheck Breilyn, Lakshmi Mehta

引用次数: 2

Abstract

Noonan syndrome represents a heterogeneous group of genetic disorders caused by mutations in genes of the RAS/MAPK pathway. Related syndromes include cardiofaciocutaneous syndrome, Noonan syndrome with multiple lentigines and Costello syndrome. The common phenotypic features of Noonan syndrome include facial dysmorphisms, short stature, congenital heart defects and genitourinary abnormalities. These and other findings as well as features of related disorders are discussed. In addition we briefly review clinical diagnosis and prenatal findings of these syndromes and genetic counseling implications.

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努南综合征及相关疾病的临床表现。

Noonan综合征是由RAS/MAPK通路基因突变引起的一组异质性遗传疾病。相关综合征包括心-面-皮综合征、Noonan综合征伴多小引擎和Costello综合征。努南综合征的常见表型特征包括面部畸形、身材矮小、先天性心脏缺陷和泌尿生殖系统异常。这些和其他发现以及相关疾病的特点进行了讨论。此外，我们简要回顾临床诊断和产前发现这些综合征和遗传咨询的意义。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Pediatric endocrinology reviews : PER Medicine-Endocrinology, Diabetes and Metabolism

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期刊介绍： PEDIATRIC ENDOCRINOLOGY REVIEWS (PER) publishes scholarly review articles in all areas of clinical and experimental Endocrinology, Diabetes, Nutrition and Metabolism. PER is intended for practicing pediatricians, pediatric endocrinologists, pediatric diabetologists, pediatric gastroenterologists, neonatologists, pediatric gynecologists, nutritionists, sport physicians and pediatricians-in-training. PER will also publish topics on specific subjects or as proceedings of scientific meetings in the above fields of interest. All articles, whether invited or direct contributions, are peer-reviewed. PER publishes correspondence, book reviews, a meeting calendar and meeting reports.