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 |
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Hauptverfasser: | , |
Format: | Artikel |
Sprache: | eng ; spa |
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Online-Zugang: | Volltext |
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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). |
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ISSN: | 1988-561X 1988-561X |
DOI: | 10.1016/j.patol.2023.07.002 |