Pfeiffer Syndrome type 2; A case report of cranio‐orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital, Tanzania

Pfeiffer syndrome is a rare genetic disorder with heterogenous phenotype and prognosis. Due to its diverse clinical presentation, it can easily be misdiagnosed. Where genetic testing still remains a challenge, antenatal sonogram can aid in early diagnosis. The cranioorbito‐faciostenosis demands aggr...

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Detalles Bibliográficos
Autores principales: Amiji, Insiyah, Kalezi, Zawadi E., Abdulshakoor, Ashfaq, Tarimo, Janet F., Leiya, Raymond, Zuechner, Antke, Naburi, Helga E., Massawe, Augustine, Manji, Karim P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7495869/
https://www.ncbi.nlm.nih.gov/pubmed/32983461
http://dx.doi.org/10.1002/ccr3.2959
Descripción
Sumario:Pfeiffer syndrome is a rare genetic disorder with heterogenous phenotype and prognosis. Due to its diverse clinical presentation, it can easily be misdiagnosed. Where genetic testing still remains a challenge, antenatal sonogram can aid in early diagnosis. The cranioorbito‐faciostenosis demands aggressive management to permit survival instead of uniform early demise.

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