[About a case of Fraser syndrome. Autopsy of a 37 weeks gestation fetus with multiple malformations].

Autor: Sánchez Godoy L; Servicio de Anatomía Patológica, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, España. Electronic address: lauragodoy1996@gmail.com., Hernández Barceló JE; Servicio de Anatomía Patológica, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, España.
Jazyk: Spanish; Castilian
Zdroj: Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia [Rev Esp Patol] 2024 Jan-Mar; Vol. 57 (1), pp. 64-66. Date of Electronic Publication: 2023 Oct 14.
DOI: 10.1016/j.patol.2023.07.002
Abstrakt: 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).
(Copyright © 2023. Publicado por Elsevier España, S.L.U.)
Databáze: MEDLINE