Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three‐generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2

BACKGROUND: Crouzon syndrome is a rare and complex autosomal dominant craniosynostosis syndrome with a prevalence of approximately 1 in 60,000 births. The typical features are craniosynostosis, proptosis, midfacial hypoplasia, and noncranial manifestations, including deformities in the cervical spin...

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Detalles Bibliográficos
Autores principales: Lin, Meina, Lu, Yongping, Sui, Yu, Zhao, Ning, Jin, Ying, Yi, Dongxu, Jiang, Miao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732274/
https://www.ncbi.nlm.nih.gov/pubmed/31318164
http://dx.doi.org/10.1002/mgg3.843

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732274/
https://www.ncbi.nlm.nih.gov/pubmed/31318164
http://dx.doi.org/10.1002/mgg3.843

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