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Ophthalmic considerations in patients with Pfeiffer syndrome

PURPOSE: We report here a newborn male infant with striking features consistent with severe Pfeiffer syndrome type II, including cloverleaf skull deformity with pansynostosis, extreme proptosis, upper extremity contractures, broad big toes and thumbs with varus deviation and genetic mutation in the...

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Detalles Bibliográficos
Autores principales: Clark, Jeremy D., Compton, Christopher J., Tahiri, Youssef, Nunery, William R., Harold Lee, Hui Bae
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5757361/
https://www.ncbi.nlm.nih.gov/pubmed/29503887
http://dx.doi.org/10.1016/j.ajoc.2016.04.001