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过度生长综合征的诊断方法

Approach to the Diagnosis of Overgrowth Syndromes.

作者信息

Suri Mohnish

机构信息

Nottingham Regional Clinical Genetics Service, Nottingham University Hospitals NHS Trust, The Gables, City Hospital Campus, Hucknall Road, Nottingham, NG5 1PB, UK.

出版信息

Indian J Pediatr. 2016 Oct;83(10):1175-87. doi: 10.1007/s12098-015-1958-1. Epub 2015 Dec 18.

Abstract

Overgrowth syndromes comprise a group of disorders associated with excessive growth and other features such as facial dysmorphism, developmental delay or intellectual disability, congenital anomalies, neurological problems and an increased risk of neoplasia. Recent advances in understanding the genetic basis of overgrowth syndromes has resulted in a move away from clinical classification to molecular classification of overgrowth syndromes. This review provides a structured clinical approach to patients with this group of disorders and includes most of the currently known overgrowth syndromes.

摘要

过度生长综合征包括一组与过度生长及其他特征相关的疾病,这些特征如面部畸形、发育迟缓或智力残疾、先天性异常、神经问题以及肿瘤形成风险增加。在理解过度生长综合征遗传基础方面的最新进展,已促使从临床分类转向过度生长综合征的分子分类。本综述为患有这组疾病的患者提供了一种结构化的临床方法,并涵盖了目前已知的大多数过度生长综合征。

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