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

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...

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Veröffentlicht in:Revista española de patología 2024-01, Vol.57 (1), p.64
Hauptverfasser: Sánchez Godoy, Laura, Hernández Barceló, José Emilio
Format: Artikel
Sprache:eng ; spa
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Zusammenfassung: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).
ISSN:1988-561X
1988-561X
DOI:10.1016/j.patol.2023.07.002