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 aggressive management to permit survival instead of uniform early demise.

[1]  H. Sawali,et al.  Bilateral choanal stenosis in a craniosynostosis child: a case report , 2018, International Journal of Otorhinolaryngology and Head and Neck Surgery.

[2]  Thomas E. Nichols,et al.  HHS Public Access , 2018 .

[3]  E. Zackai,et al.  Tracheal cartilaginous sleeves in children with syndromic craniosynostosis , 2016, Genetics in Medicine.

[4]  W. Nunery,et al.  Ophthalmic considerations in patients with Pfeiffer syndrome , 2016, American journal of ophthalmology case reports.

[5]  E. Badoe.  Pfeiffer syndrome type 3, a rare and unusual craniosynostosis: case reports from Korle Bu Teaching Hospital, Accra, Ghana. , 2013, West African journal of medicine.

[6]  E. Zackai,et al.  Tracheal anomalies in Pfeiffer syndrome. , 2004, Archives of otolaryngology--head & neck surgery.

[7]  M. Nöthen,et al.  Prenatal diagnosis of Pfeiffer syndrome type II , 2004, Prenatal diagnosis.

[8]  M. Oyamada,et al.  Pfeiffer Syndrome type 2--case report. , 2003, Sao Paulo medical journal = Revista paulista de medicina.

[9]  M. Siegel,et al.  Pfeiffer Syndrome, Type II , 2001, Journal of Perinatology.

[10]  E. Zackai,et al.  Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. , 1995, Human molecular genetics.

[11]  M. Cohen,et al.  Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. , 1993, American journal of medical genetics.