Pfeiffer Syndrome Type 2 : Prenatal diagnosis. Case report and literature review

• Autores: Huertas Tacchino, Erasmo, La Serna-Infantes, Jorge, Alvarado Merino, Rosa, Ingar Pinedo, Jaime, Castillo Urquiaga, Walter, Zárate Girao, Mario, Ventura Laveriano, Walter
• Formato: artículo
• Fecha de Publicación: 2019
• Institución: Sociedad Peruana de Obstetricia y Ginecología
• Repositorio: Revista Peruana de Ginecología y Obstetricia
• Lenguaje: español
• OAI Identifier: oai:ginecologiayobstetricia.pe:article/2196
• Enlace del recurso: https://ginecologiayobstetricia.pe/index.php/RPGO/article/view/2196
• Nivel de acceso: acceso abierto

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.