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Pfeiffer Syndrome type 2; A case report of cranio-orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital, Tanzania.
Amiji, Insiyah; Kalezi, Zawadi E; Abdulshakoor, Ashfaq; Tarimo, Janet F; Leiya, Raymond; Zuechner, Antke; Naburi, Helga E; Massawe, Augustine; Manji, Karim P.
Afiliación
  • Amiji I; Department of Paediatric and Child Health School of Medicine Muhimbili University of Health and Allied Sciences Dar es Salaam Tanzania.
  • Kalezi ZE; Department of Paediatric and Child Health School of Medicine Muhimbili University of Health and Allied Sciences Dar es Salaam Tanzania.
  • Abdulshakoor A; Department of Otorhinolaryngology School of Medicine Muhimbili University of Health and Allied Sciences Dar es Salaam Tanzania.
  • Tarimo JF; Department of Paediatric and Child Health School of Medicine Muhimbili University of Health and Allied Sciences Dar es Salaam Tanzania.
  • Leiya R; Department of Otorhinolaryngology School of Medicine Muhimbili University of Health and Allied Sciences Dar es Salaam Tanzania.
  • Zuechner A; Department of Paediatric and Child Health School of Medicine Muhimbili University of Health and Allied Sciences Dar es Salaam Tanzania.
  • Naburi HE; Department of Paediatric and Child Health School of Medicine Muhimbili University of Health and Allied Sciences Dar es Salaam Tanzania.
  • Massawe A; Department of Paediatric and Child Health School of Medicine Muhimbili University of Health and Allied Sciences Dar es Salaam Tanzania.
  • Manji KP; Department of Paediatric and Child Health School of Medicine Muhimbili University of Health and Allied Sciences Dar es Salaam Tanzania.
Clin Case Rep ; 8(9): 1613-1617, 2020 Sep.
Article en En | MEDLINE | ID: mdl-32983461
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 demands aggressive management to permit survival instead of uniform early demise.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Screening_studies Idioma: En Revista: Clin Case Rep Año: 2020 Tipo del documento: Article
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Screening_studies Idioma: En Revista: Clin Case Rep Año: 2020 Tipo del documento: Article