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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Bibliographic Details
Published in:Clinical case reports 2020-09, Vol.8 (9), p.1613-1617
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: Article
Language:English
Subjects:
Babies
Bronchoscopy
Case Report
Case Reports
choanal atresia
cloverleaf shaped skull
Congenital diseases
Defects
Fibroblasts
Gallbladder
Growth factors
Hydrocephalus
Hydronephrosis
Intracranial pressure
Kidneys
Mutation
Otolaryngology
Patients
Pfeiffer syndrome
proptosis
Strabismus
Surgery
Ultrasonic imaging
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Summary: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. 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 cranio‐orbitofaciostenosis demands aggressive management to permit survival instead of uniform early demise.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.2959