Amanda de Sousa Lima Strafacci1, Juliana Fernandes Camargo2, Fábio Bertapelli3, Gil Guerra Júnior4,3. 1. Department of Pediatrics, School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil. amandastrafacci@hotmail.com. 2. Prof. Dr. José Aristodemo Pinotti Women's Hospital, UNICAMP, Sao Paulo, Campinas, Brazil. 3. Laboratory of Growth and Development, Center for Investigation in Pediatrics (CIPED), FCM, UNICAMP, Sao Paulo, Campinas, Brazil. 4. Department of Pediatrics, School of Medical Sciences (FCM), State University of Campinas (UNICAMP), Campinas, Sao Paulo, Brazil.
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.
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 WBSpatients because it often underestimate their growth. Specific growth charts for WBSpatients are necessary.
Entities:
Keywords:
Body height; Body mass index; Body weight; Cephalometry; Growth charts; Williams-Beuren syndrome
Authors: Roberto José Negrão Nogueira; Leonardo Ferreira Zimmerman; Yara Maria Franco Moreno; Cláudia Regina Comparini; Danilo Viela Viana; Tarsis Antonio Paiva Vieira; Carlos Eduardo Steiner; Vera Lúcia Gil-da-Silva-Lopes Journal: Rev Assoc Med Bras (1992) Date: 2011 Nov-Dec Impact factor: 1.209
Authors: Paul Kruszka; Antonio R Porras; Deise Helena de Souza; Angélica Moresco; Victoria Huckstadt; Ashleigh D Gill; Alec P Boyle; Tommy Hu; Yonit A Addissie; Gary T K Mok; Cedrik Tekendo-Ngongang; Karen Fieggen; Eloise J Prijoles; Pranoot Tanpaiboon; Engela Honey; Ho-Ming Luk; Ivan F M Lo; Meow-Keong Thong; Premala Muthukumarasamy; Kelly L Jones; Khadija Belhassan; Karim Ouldim; Ihssane El Bouchikhi; Laila Bouguenouch; Anju Shukla; Katta M Girisha; Nirmala D Sirisena; Vajira H W Dissanayake; C Sampath Paththinige; Rupesh Mishra; Monisha S Kisling; Carlos R Ferreira; María Beatriz de Herreros; Ni-Chung Lee; Saumya S Jamuar; Angeline Lai; Ee Shien Tan; Jiin Ying Lim; Cham Breana Wen-Min; Neerja Gupta; Stephanie Lotz-Esquivel; Ramsés Badilla-Porras; Dalia Farouk Hussen; Mona O El Ruby; Engy A Ashaat; Siddaramappa J Patil; Leah Dowsett; Alison Eaton; A Micheil Innes; Vorasuk Shotelersuk; Ëben Badoe; Ambroise Wonkam; María Gabriela Obregon; Brian H Y Chung; Milana Trubnykova; Jorge La Serna; Bertha Elena Gallardo Jugo; Miguel Chávez Pastor; Hugo Hernán Abarca Barriga; Andre Megarbane; Beth A Kozel; Mieke M van Haelst; Roger E Stevenson; Marshall Summar; A Adebowale Adeyemo; Colleen A Morris; Danilo Moretti-Ferreira; Marius George Linguraru; Maximilian Muenke Journal: Am J Med Genet A Date: 2018-05 Impact factor: 2.578