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

Abstract 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 dem...

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Detalhes bibliográficos
Main Authors: Insiyah Amiji, Zawadi E. Kalezi, Ashfaq Abdulshakoor, Janet F. Tarimo, Raymond Leiya, Antke Zuechner, Helga E. Naburi, Augustine Massawe, Karim P. Manji
Formato: Artigo
Idioma:Inglês
Publicado em: Wiley 2020-09-01
Colecção:Clinical Case Reports
Assuntos:
choanal atresia
cloverleaf shaped skull
Pfeiffer syndrome
proptosis
Acesso em linha:https://doi.org/10.1002/ccr3.2959
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