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

2025-06-01 genetic and genomic medicine Title + abstract only
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PurposeFacial 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. MethodsWe analyzed 3D facial photos from 24 individuals with CdCS, 4540 unaffected controls and 5 individua...

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