Growth assessment in children with Williams-Beuren syndrome: a systematic review

Journal of Applied Genetics
Amanda de Sousa Lima StrafacciGil Guerra Júnior

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 ...Continue Reading

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Citations

Nov 10, 2020·Current Opinion in Endocrinology, Diabetes, and Obesity·Takara L StanleyBarbara R Pober
Jun 19, 2021·Nature Reviews. Disease Primers·Beth A KozelBarbara R Pober

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