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

J Appl Genet. 2020 May;61(2):205-212. doi: 10.1007/s13353-020-00551-x. Epub 2020 Mar 10.


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.

Keywords: Body height; Body mass index; Body weight; Cephalometry; Growth charts; Williams-Beuren syndrome.

Publication types

  • Systematic Review

MeSH terms

  • Adolescent
  • Body Mass Index
  • Body Weight
  • Child
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 7 / genetics*
  • Facies
  • Female
  • Humans
  • Male
  • Obesity / complications
  • Obesity / diagnosis
  • Obesity / genetics*
  • Obesity / physiopathology
  • Williams Syndrome / complications
  • Williams Syndrome / diagnosis
  • Williams Syndrome / genetics*
  • Williams Syndrome / physiopathology