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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Bibliografiske detaljer
Udgivet i:Clin Case Rep
Main Authors: Amiji, Insiyah, Kalezi, Zawadi E., Abdulshakoor, Ashfaq, Tarimo, Janet F., Leiya, Raymond, Zuechner, Antke, Naburi, Helga E., Massawe, Augustine, Manji, Karim P.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2020
Fag:
Case Reports
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7495869/
https://ncbi.nlm.nih.gov/pubmed/32983461
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.2959
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