Síndrome de Pfeiffer tipo 2: Diagnóstico prenatal. Reporte de caso y revisión de la literatura

Erasmo Huertas Tacchino; Jorge La Serna-Infantes; Rosa Alvarado Merino; Jaime Ingar Pinedo; Walter Castillo Urquiaga; Mario Zárate Girao; Walter Ventura Laveriano

doi:10.31403/RPGO.V66I2196

Síndrome de Pfeiffer tipo 2: Diagnóstico prenatal. Reporte de caso y revisión de la literatura

Translated title of the contribution: Pfeiffer syndrome type 2: Prenatal diagnosis. case report and literature review

Erasmo Huertas Tacchino
, Jorge La Serna-Infantes
, Rosa Alvarado Merino
, Jaime Ingar Pinedo
, Walter Castillo Urquiaga
, Mario Zárate Girao
, Walter Ventura Laveriano

National Maternal Perinatal Institute
Universidad Nacional Mayor de San Marcos
Instituto Genómico McKusick

Research output: Contribution to journal › Review article › peer-review

2 Scopus citations

Abstract

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.

Translated title of the contribution	Pfeiffer syndrome type 2: Prenatal diagnosis. case report and literature review
Original language	Spanish
Pages (from-to)	361-366
Number of pages	6
Journal	Revista Peruana de Ginecologia y Obstetricia
Volume	65
Issue number	3
DOIs	https://doi.org/10.31403/RPGO.V66I2196
State	Published - 2019
Externally published	Yes

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title = "S{\'i}ndrome de Pfeiffer tipo 2: Diagn{\'o}stico prenatal. Reporte de caso y revisi{\'o}n de la literatura",

abstract = "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.",

keywords = "Pfeiffer syndrome, Ultrasound, phenotype 2",

author = "Tacchino, \{Erasmo Huertas\} and \{La Serna-Infantes\}, Jorge and Merino, \{Rosa Alvarado\} and Pinedo, \{Jaime Ingar\} and Urquiaga, \{Walter Castillo\} and Girao, \{Mario Z{\'a}rate\} and Laveriano, \{Walter Ventura\}",

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doi = "10.31403/RPGO.V66I2196",

language = "Espa{\~n}ol",

volume = "65",

pages = "361--366",

journal = "Revista Peruana de Ginecologia y Obstetricia",

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TY - JOUR

T1 - Síndrome de Pfeiffer tipo 2

T2 - Diagnóstico prenatal. Reporte de caso y revisión de la literatura

AU - Tacchino, Erasmo Huertas

AU - La Serna-Infantes, Jorge

AU - Merino, Rosa Alvarado

AU - Pinedo, Jaime Ingar

AU - Urquiaga, Walter Castillo

AU - Girao, Mario Zárate

AU - Laveriano, Walter Ventura

PY - 2019

Y1 - 2019

N2 - 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.

AB - 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.

KW - Pfeiffer syndrome

KW - Ultrasound

KW - phenotype 2

UR - https://www.scopus.com/pages/publications/85119912505

U2 - 10.31403/RPGO.V66I2196

DO - 10.31403/RPGO.V66I2196

M3 - Artículo de revisión

AN - SCOPUS:85119912505

SN - 2304-5124

VL - 65

SP - 361

EP - 366

JO - Revista Peruana de Ginecologia y Obstetricia

JF - Revista Peruana de Ginecologia y Obstetricia

IS - 3

ER -

Síndrome de Pfeiffer tipo 2: Diagnóstico prenatal. Reporte de caso y revisión de la literatura

Abstract

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