Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome
This work explores 3D facial morphometry to complement the standard clinical assessment of facial dysmorphism. It provides insights into the genetic basis of facial shape in CdCS and highlights the potential of 3D morphometric techniques to facilitate clinical diagnostics, variant interpretation and delineation of syndrome nosology.
Authors
- Ophir D. Klein (ORCID: https://orcid.org/0000-0002-6254-7082)
- Harold Matthews (ORCID: https://orcid.org/0000-0002-0524-0025)
- Michiel Vanneste (ORCID: https://orcid.org/0000-0003-0222-5740)
- Seth M. Weinberg (ORCID: https://orcid.org/0000-0001-9467-4556)
- Yoeri Sleyp (ORCID: https://orcid.org/0000-0003-3499-0439)
- Peter D. Claes (ORCID: https://orcid.org/0000-0001-9489-9819)
- Benedikt Hallgrimsson
- Mary L. Marazita (ORCID: https://orcid.org/0000-0002-2648-2832)
- Peter Hammond (ORCID: https://orcid.org/0000-0003-3208-4459)
- Mark D. Shriver (ORCID: https://orcid.org/0000-0003-0006-0479)
- Richard A. Spritz (ORCID: https://orcid.org/0000-0002-8325-0026)
- Susan Walsh (ORCID: https://orcid.org/0000-0002-7064-1589)
- Hilde Peeters (ORCID: https://orcid.org/0000-0002-7295-3375)
- Kris Van Den Bogaert
Institutions
- Cedars-Sinai Medical Center (US)
- Pennsylvania State University (US)
- University of Indianapolis (US)
- University of Calgary (CA)
- University of Pittsburgh (US)
- Alberta Children's Hospital (CA)
- Alberta Bone and Joint Health Institute (CA)
- University of Colorado Anschutz Medical Campus (US)
- Indiana University – Purdue University Indianapolis (US)
- University of Colorado Denver (US)
- KU Leuven (BE)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-11-20
- DOI
- https://doi.org/10.1136/jmg-2025-110940
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00