Murdoch Childrens Research Institute, Royal Children's Hospital and University of Melbourne, Parkville, Victoria, Australia.
Curr Opin Pediatr. 2012 Aug;24(4):505-11. doi: 10.1097/MOP.0b013e3283558995.
Human growth ensues from a complex interplay of physiological factors, in the wider setting of varying genetic traits and environmental influences. Intensive research in these divergent areas, and particularly in the field of genetics, continues to clarify the molecular basis of disorders which result in overgrowth, and it is therefore timely to provide a review of these findings.
This article provides an overview of the factors which regulate growth, followed by a discussion of the more commonly encountered overgrowth syndromes and their genetic basis as it is understood at the current time. There is also an added focus on recently discovered genetic associations in some conditions, such as Weaver, Perlman and Proteus syndromes.
New discoveries continue to be made regarding the genetic basis for many overgrowth syndromes and the development of a much needed molecular classification system for overgrowth may become possible as the interlinking functions of these genes on growth are unravelled. As there exists a wide spectrum of syndromes, disorders resulting in overgrowth can represent a diagnostic and therapeutic challenge, from those causing prenatal overgrowth with a poor prognosis to less severe genetic aberrations which are identified in later childhood or adult life.
人类生长是生理因素复杂相互作用的结果，在不同遗传特征和环境影响的广泛背景下。这些不同领域，特别是遗传学领域的深入研究，不断阐明导致过度生长的疾病的分子基础，因此及时对这些发现进行综述是适时的。
本文概述了调节生长的因素，随后讨论了更常见的过度生长综合征及其遗传基础，就目前而言，遗传基础就是如此。本文还特别关注了一些疾病中最近发现的遗传关联，如 Weaver、Perlman 和 Proteus 综合征。
关于许多过度生长综合征的遗传基础的新发现仍在不断涌现，随着这些基因在生长过程中的相互作用功能被揭示，一种对过度生长进行分类的分子分类系统也可能成为可能。由于存在广泛的综合征，导致过度生长的疾病可能代表着诊断和治疗的挑战，从预后不良的产前过度生长到在儿童后期或成年期发现的不太严重的遗传异常。
