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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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
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author Amiji, Insiyah
Kalezi, Zawadi E.
Abdulshakoor, Ashfaq
Tarimo, Janet F.
Leiya, Raymond
Zuechner, Antke
Naburi, Helga E.
Massawe, Augustine
Manji, Karim P.
author_facet Amiji, Insiyah
Kalezi, Zawadi E.
Abdulshakoor, Ashfaq
Tarimo, Janet F.
Leiya, Raymond
Zuechner, Antke
Naburi, Helga E.
Massawe, Augustine
Manji, Karim P.
author_sort Amiji, Insiyah
collection PubMed
description 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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spelling pubmed-74958692020-09-25 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. Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2020-05-20 /pmc/articles/PMC7495869/ /pubmed/32983461 http://dx.doi.org/10.1002/ccr3.2959 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Amiji, Insiyah
Kalezi, Zawadi E.
Abdulshakoor, Ashfaq
Tarimo, Janet F.
Leiya, Raymond
Zuechner, Antke
Naburi, Helga E.
Massawe, Augustine
Manji, Karim P.
Pfeiffer Syndrome type 2; A case report of cranio‐orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital, Tanzania
title Pfeiffer Syndrome type 2; A case report of cranio‐orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital, Tanzania
title_full Pfeiffer Syndrome type 2; A case report of cranio‐orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital, Tanzania
title_fullStr Pfeiffer Syndrome type 2; A case report of cranio‐orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital, Tanzania
title_full_unstemmed Pfeiffer Syndrome type 2; A case report of cranio‐orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital, Tanzania
title_short Pfeiffer Syndrome type 2; A case report of cranio‐orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital, Tanzania
title_sort pfeiffer syndrome type 2; a case report of cranio‐orbitofaciostenosis with bilateral choanal atresia at muhimbili national hospital, tanzania
topic Case Reports
url 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
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