Pfeiffer Syndrome type 2; A case report of cranio-orbitofaciostenosis with bilateral choanal atresia at Muhimbili National Hospital, Tanzania.
Clin Case Rep
; 8(9): 1613-1617, 2020 Sep.
Article
en En
| MEDLINE
| ID: mdl-32983461
ABSTRACT
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Tipo de estudio:
Prognostic_studies
/
Screening_studies
Idioma:
En
Revista:
Clin Case Rep
Año:
2020
Tipo del documento:
Article