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Article Abstract
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.
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