TY - JOUR
T1 - Growth Charts for Children With Beckwith-Wiedemann Spectrum
AU - Maas, Saskia M
AU - Lauffer, Peter
AU - Cocchi, Guido
AU - DeMarchis, Madison
AU - George, Andrew M
AU - Mussa, Alessandro
AU - Pellegrino, Francesco
AU - Spaans, Alexander M J
AU - van den Brink, Emma C
AU - Wit, Jan M
AU - Kalish, Jennifer M
AU - Menke, Leonie A
N1 - Publisher Copyright:
© 2025 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
PY - 2025/8
Y1 - 2025/8
N2 - Beckwith-Wiedemann spectrum (BWSp) is an overgrowth disorder caused by (epi)genetic alterations in chromosome 11p15. This study aimed to develop BWSp-specific growth charts and explore genotype/phenotype correlations with respect to growth. Heights, weights, and head circumferences were retrospectively collected from 581 individuals with BWSp from the Netherlands, Italy, and the United States. The Generalized Additive Models for Location, Scale, and Shape (GAMLSS) method was employed to develop the following charts: height-for-age, weight-for-age, BMI-for-age, and head circumference-for-age for males and females. Mean height, weight, and head circumference were compared with those of the growth charts generated by the World Health Organization (WHO). Individuals with BWSp show enhanced growth rate during puberty and adolescence, and all growth parameters were increased compared to WHO charts. Mean modeled height at 18 years of age was 180.6 cm for males and 166.3 cm for females (+0.6 SDS and +0.5 SDS, respectively, compared to WHO charts). In conclusion, these growth charts offer valuable insights into the growth patterns in BWSp individuals and provide a key tool for personalized medical care for individuals with BWSp.
AB - Beckwith-Wiedemann spectrum (BWSp) is an overgrowth disorder caused by (epi)genetic alterations in chromosome 11p15. This study aimed to develop BWSp-specific growth charts and explore genotype/phenotype correlations with respect to growth. Heights, weights, and head circumferences were retrospectively collected from 581 individuals with BWSp from the Netherlands, Italy, and the United States. The Generalized Additive Models for Location, Scale, and Shape (GAMLSS) method was employed to develop the following charts: height-for-age, weight-for-age, BMI-for-age, and head circumference-for-age for males and females. Mean height, weight, and head circumference were compared with those of the growth charts generated by the World Health Organization (WHO). Individuals with BWSp show enhanced growth rate during puberty and adolescence, and all growth parameters were increased compared to WHO charts. Mean modeled height at 18 years of age was 180.6 cm for males and 166.3 cm for females (+0.6 SDS and +0.5 SDS, respectively, compared to WHO charts). In conclusion, these growth charts offer valuable insights into the growth patterns in BWSp individuals and provide a key tool for personalized medical care for individuals with BWSp.
KW - BMI
KW - Beckwith–Wiedemann spectrum
KW - growth
KW - growth charts
KW - height
KW - weight
UR - https://www.scopus.com/pages/publications/105002150789
U2 - 10.1002/ajmg.a.64073
DO - 10.1002/ajmg.a.64073
M3 - Article
C2 - 40183198
SN - 1552-4825
VL - 197
SP - e64073
JO - American journal of medical genetics. Part A
JF - American journal of medical genetics. Part A
IS - 8
M1 - e64073
ER -