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Inicio Revista Española de Patología A propósito de un caso de síndrome de Fraser. Autopsia de un feto de 37 semana...
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Vol. 57. Issue 1.
Pages 64-66 (January - March 2024)
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Vol. 57. Issue 1.
Pages 64-66 (January - March 2024)
Artículo breve
A propósito de un caso de síndrome de Fraser. Autopsia de un feto de 37 semanas de gestación con múltiples malformaciones
About a case of Fraser syndrome. Autopsy of a 37 weeks gestation fetus with multiple malformations
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Laura Sánchez Godoy
Corresponding author
lauragodoy1996@gmail.com

Autor para correspondencia.
, José Emilio Hernández Barceló
Servicio de Anatomía Patológica, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, España
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Resumen

El síndrome de Fraser o síndrome criptoftalmos/sindactilia es una enfermedad genética rara, cuyo diagnóstico se basa en una serie de criterios clínicos mayores y menores, y que puede apoyarse en pruebas genéticas. En este artículo se presenta el caso de una autopsia fetal de 37 semanas de gestación con sospecha de síndrome de CHAOS (síndrome obstructivo congénito de las vías aéreas altas).

Palabras clave:
Autopsia
autopsia fetal
Enfermedad fetal
Síndrome de Fraser
Criptoftalmos
Sindactilia
Enfermedad rara
Enfermedad genética
Abstract

Fraser syndrome or cryptophthalmos-syndactyly syndrome is a rare genetic disease, the diagnosis of which is based on a series of major and minor clinical criteria and that can be supported by genetic tests. This article presents the case of a fetal autopsy at 37 weeks of gestation with suspicion of CHAOS syndrome (congenital obstructive syndrome of the upper airways).

Keywords:
Autopsy
Fetal autopsy
Fetal pathology
Fraser syndrome
Cryptophthalmos
Syndactyly
Rare disease
Genetic disease

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