Abstract
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.
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To Sao Paulo Research Foundation (FAPESP 2017/13071-4 for FB).
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ASLS conducted the survey, gathered data from literature, independent reviewer, PRISMA checklist, data interpretation, wrote the manuscript, and submitted the study; JFC independent reviewer and PRISMA checklist; FB gathered data from literature and revised the manuscript; GGJ planned the study, revised the manuscript, and supervised the study. All authors have approvals of the final manuscript to be published.
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This was a review study of previously published data and, therefore, evaluation and approval by the ethics committee was not mandatory. The data were not used for any purposes other than those in the original studies and no further data was collected..
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Communicated by: Michal Witt
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de Sousa Lima Strafacci, A., Fernandes Camargo, J., Bertapelli, F. et al. Growth assessment in children with Williams-Beuren syndrome: a systematic review. J Appl Genetics 61, 205–212 (2020). https://doi.org/10.1007/s13353-020-00551-x
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DOI: https://doi.org/10.1007/s13353-020-00551-x