Advancing Genotype-Phenotype Analysis through 3D Facial Morphometry: Insights from Cri-du-Chat Syndrome.

ABSTRACT:

Purpose

Facial dysmorphism is a feature of many monogenic disorders, and is important in diagnostics, variant interpretation and nosology. Nevertheless, comprehensively assessing the complex facial shape changes associated with specific syndromes remains challenging. Here, we present 3D morphometric approaches to overcome these limitations, utilizing Cri-du-Chat syndrome (CdCS) as a model.

Methods

We analyzed 3D facial photos from 24 individuals with CdCS, 4540 unaffected controls and 5 individuals with rare 5p15.33-15.32 deletions, incorporating two methods to account for age- and sex-related facial variation. We quantified phenotypic variation within and between groups and explored genotype-phenotype correlations in CdCS.

Results

We identified changes in the charact

SUBMITTER: Vanneste M 

PROVIDER: S-EPMC12148260 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature