Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review.

ABSTRACT:

Background

Data on clinical manifestations of neurofibromatosis-Noonan syndrome (NF-NS) remain heterogeneous, with limited validated descriptions.

Methods

This study aims to better define the clinical and molecular features of NF-NS and compare them with existing literature. Secondary objectives include evaluating inter-rater diagnostic agreement among experienced clinicians and assessing the utility of deep-learning algorithms (Face2Gene^® [F2G]). Additionally, we assess the prevalence of congenital heart malformations (CHM) in NF-NS compared to 'classic' neurofibromatosis type 1 (NF1). A 9-year, prospective, monocentric study was conducted, involving patients with NF1 pathogenic variants (PVs) and Noonan syndrome-like facial phenotype (NSLFP).

Results

Twen

SUBMITTER: Bessis D 

PROVIDER: S-EPMC12036184 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature