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Article

Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome.

Journal of medical genetics - 20 Jan 2026

Vanneste Michiel, Matthews Harold, Sleyp Yoeri, Hammond Peter, Shriver Mark, Weinberg Seth M, Marazita Mary L, Walsh Susan, Hallgrimsson Benedikt, Klein Ophir D, Spritz Richard, Van Den Bogaert Kris, Claes Peter, Peeters Hilde

Abstract excerpt

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 three-dimensional (3D) morphometric approaches to overcome these limitations, using Cri-du-Chat syndrome (CdCS) as a model....

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Identifiers

PMID: 41266135
DOI: 10.1136/jmg-2025-110940
PMCID: PMC13198709

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