1.
Clin Case Rep
; 8(9): 1613-1617, 2020 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32983461
RESUMO
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.