Open AccessPfeiffer Syndrome type 2; A case report of cranio‐orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital, Tanzania
Author(s) -
Amiji Insiyah,
Kalezi Zawadi E.,
Abdulshakoor Ashfaq,
Tarimo Janet F.,
Leiya Raymond,
Zuechner Antke,
Naburi Helga E.,
Massawe Augustine,
Manji Karim P.
Publication year - 2020
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.2959
Subject(s) - medicine , choanal atresia , tanzania , demise , pediatrics , presentation (obstetrics) , genetic disorder , genetic testing , genetic condition , intensive care medicine , surgery , atresia , pathology , disease , environmental science , environmental planning , political science , law
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.