Łaczmańska Izabela, Kuliczkowska-Płaksej Justyna, Stembalska Agnieszka
Department of Genetics, Wroclaw Medical University, Poland.
Department of Endocrinology, Diabetology and Isotope Therapy, Wroclaw Medical University, Poland.
Adv Clin Exp Med. 2018 Mar;27(3):409-414. doi: 10.17219/acem/67051.
Short stature, which is defined as height below 2 standard deviations of the mean height for the age and sex, is one of the most frequent reasons for medical consultations in children. Short stature may occur due to a constitutional delay in growth, familial short stature or chronic diseases, including many genetic syndromes, metabolic and endocrine disorders. In this article the authors provide a mini-review of the most frequent genetic syndromes associated with short stature that should be taken into account in the differential diagnosis process. Syndromes caused by chromosomal aberrations and gene mutations were divided into 2 main groups: syndromes that are associated with intrauterine growth retardation (IUGR) and those in which IUGR does not occur in the natural history of the patient. The authors described the most important anomalies in each syndrome. Metabolic diseases and skeletal dysplasias were omitted, as they are major separate groups of diseases involving growth delay.
身材矮小定义为身高低于同年龄、同性别人群平均身高的2个标准差，是儿童就诊最常见的原因之一。身材矮小可能由生长发育体质性延迟、家族性身材矮小或慢性疾病引起，包括许多遗传综合征、代谢和内分泌紊乱。在本文中，作者对身材矮小相关的最常见遗传综合征进行了简要综述，这些综合征在鉴别诊断过程中应予以考虑。由染色体畸变和基因突变引起的综合征分为两大类：与宫内生长迟缓（IUGR）相关的综合征和患者自然病程中不发生IUGR的综合征。作者描述了每种综合征中最重要的异常情况。代谢性疾病和骨骼发育不良被排除在外，因为它们是涉及生长发育迟缓的主要独立疾病组。
