Resumo

HUERTAS TACCHINO, Erasmo et al. Pfeiffer Syndrome Type 2: Prenatal diagnosis. Case report and literature review. Rev. peru. ginecol. obstet. [online]. 2019, vol.65, n.3, pp.361-366. ISSN 2304-5132.  http://dx.doi.org/10.31403/rpgo.v66i2196.

Pfeiffer syndrome is an autosomic dominant disorder characterized by craniosynostosis, midface hypoplasia and syndactyly of the hands and feet. Three different phenotypes have been described, where type 2 is the most severe and the one amenable of prenatal diagnosis. We present the first clinical case reported at Instituto Nacional Materno Perinatal, Lima, Peru, of a fetus with suspicious ultrasound prenatal findings of this syndrome including cloverleaf-shaped skull, severe ventriculomegaly, frontal bossing, ocular proptosis and overlapped fingers, who was born by cesarean section and died at day eight due to progressive respiratory distress.

Palavras-chave : Pfeiffer syndrome; phenotype 2; Ultrasound.

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