Williams-Beuren syndrome (WBS) is a rare genetic disease caused by a sporadic heterozygous microdeletion in 7q11.23. It is characterized by distinctive facial appearance, cardiopathy, short stature, intellectual disability, and endocrine abnormalities. To evaluate the growth pattern of patients with WBS and to identify the prevalence of malnutrition, overweight, and obesity in this population, a systematic review of studies published in English, between 1987 and 2018, was performed following the PRISMA protocol using the PubMed, Cochrane, and BIREME databases. Original articles and articles that evaluated growth status using weight, or height, or head circumference (HC), or body mass index (BMI) of individuals with WBS were included. Case reports, articles with data from other syndromes, and articles that did not present as a central theme the evaluation of growth were not included. WBS presented specific growth pattern, characterized by intrauterine growth restriction, low weight, length, and HC at birth. This global growth delay persisted during childhood and adolescence. BMI was not different to the reference population, and obesity was not observed in childhood. The mechanisms that determine this typical growth pattern are not totally clear; however, the typical pubertal development of these patients and the intrinsic and secondary lesions caused by microdeletion at 7q11.23 seem to be the major factors involved. Conclusion: Patients with WBS have a growth pattern different from the general reference population. The reference charts for normal population should not be used for WBS patients because it often underestimate their growth. Specific growth charts for WBS patients are necessary.

中文翻译：

---

Williams-Beuren综合征儿童的生长评估：系统评价

Williams-Beuren综合征（WBS）是一种罕见的遗传病，由7q11.23中的零星杂合微缺失引起。它的特征是独特的面部外观，心脏病，身材矮小，智力残疾和内分泌异常。为了评估WBS患者的生长方式并确定该人群中营养不良，超重和肥胖的患病率，根据PRISMA方案，使用Cochrane的PubMed对1987年至2018年间以英语发表的研究进行了系统的综述和BIREME数据库。包括原始文章和使用WBS个体的体重，身高或头围（HC）或体重指数（BMI）评估生长状态的文章。病例报告，包含其他综合症数据的文章，并没有包括那些没有以增长为中心主题的文章。WBS表现出特定的生长方式，其特征是子宫内生长受限，体重轻，体长短，出生时HC。这种全球增长的延迟在儿童和青少年时期持续存在。体重指数与参考人群没有差异，在儿童时期未观察到肥胖。决定这种典型增长方式的机制尚不完全清楚。然而，这些患者的典型青春期发育以及由7q11.23的微缺失引起的内在和继发性病变似乎是涉及的主要因素。结论：WBS患者的生长方式与一般参考人群不同。WBS患者不应使用正常人群的参考图，因为它经常低估了他们的成长。WBS患者的特定生长图是必要的。