Blended Phenotypes in Siblings: Dual Diagnoses of Nicolaides-Baraitser and Craniosynostosis Syndromes
This case expands the molecular and clinical spectrum of NCBRS and CRS3 and underscores the utility of trio-based WES in detecting blended phenotypes of disorders with growing phenotypic spectrums. Paternal germline mosaicism may underlie high recurrence and inform reproductive counseling.
Authors
- Éliane Chouery (ORCID: https://orcid.org/0000-0002-6257-6609)
- André Mégarbané (ORCID: https://orcid.org/0000-0003-0714-2469)
- Stephany El‐Hayek (ORCID: https://orcid.org/0000-0002-2456-0905)
- Marie‐Paule Lefranc (ORCID: https://orcid.org/0000-0003-0116-9353)
- Cybel Mehawej (ORCID: https://orcid.org/0000-0002-7209-9359)
- Sami Bizzari
- Sandra Corbani
- Pratibha Nair (ORCID: https://orcid.org/0000-0002-1821-2496)
Institutions
- Centre National de la Recherche Scientifique (FR)
- Centre for Arab Genomic Studies (AE)
- Université de Montpellier (FR)
- Fondation Jérôme-Lejeune (FR)
- Institut de Génétique Humaine (FR)
- Lebanese American University (LB)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-10-17
- DOI
- https://doi.org/10.1159/000549014
- Primary Topic
- Craniofacial Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.00