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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.

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