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Type II Pfieffer misdiagnosed as Crouzon syndrome with additional features of supernumerary teeth and localized symmetrical gigantism: a case report

BACKGROUND: Pfieffer syndrome is among the syndromes seen in the recognized variant of the FGFR2 gene. There are several conditions related to this variant and a very closely related condition is Crouzon syndrome. This case is important to report because the neonate was a delayed referral from anoth...

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Detalles Bibliográficos
Autores principales: Manji, Karim P., Massomo, Mariam Mngoya, Akyoo, Edna Samson, Luvinga, McLean Abisai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9624000/
https://www.ncbi.nlm.nih.gov/pubmed/36316724
http://dx.doi.org/10.1186/s13256-022-03586-2