Noonan Syndrome Growth Charts and Genotypes: 15-Year Longitudinal Single-Centre Study.

ABSTRACT:

Introduction

Growth patterns in Noonan syndrome (NS) remain relatively unknown. The objective of this study was to provide growth reference curves for patients with NS and identify correlations between their growth, genotype, and clinical features.

Methods

This was a 15-year-long, monocentric, observational, retrospective, non-interventional study. Children with NS followed up between 2005 and 2022 at "Bambino Gesù" Children's Hospital, Italy, were included and excluded if they had received growth hormone treatment. Comparison of growth curves of participants with NS versus the general Italian population and further genotypic analyses were performed.

Results

Overall, 190 eligible participants with NS were identified, with median (interquartile range) age of 14.01 (9.0

SUBMITTER: Cappa M 

PROVIDER: S-EPMC12668709 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature