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Freeman-Burian syndrome

CLINICAL DESCRIPTION: Freeman-Burian syndrome (FBS) is a rare congenital myopathic craniofacial syndrome. Considerable variability in severity is seen, but diagnosis requires the following: microstomia, whistling-face appearance (pursed lips), H or V-shaped chin defect, and prominent nasolabial fold...

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Detalles Bibliográficos
Autores principales: Poling, Mikaela I., Dufresne, Craig R., Chamberlain, Robert L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327538/
https://www.ncbi.nlm.nih.gov/pubmed/30630514
http://dx.doi.org/10.1186/s13023-018-0984-2

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