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
Rev. esp. patol
; 57(1): 64-66, ene.-mar. 2024. ilus
Article
in Spanish
| IBECS
| ID: ibc-EMG-545
Responsible library:
ES1.1
Localization: ES15.1 - BNCS
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). (AU)
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). (AU)
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Full text:
Available
Collection:
National databases
/
Spain
Health context:
Sustainable Health Agenda for the Americas
/
SDG3 - Target 3.1 Reduce Maternal Mortality
Health problem:
Goal 3 Human resources for health
/
Goal 6: Information systems for health
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Maternal Care
Database:
IBECS
Main subject:
Autopsy
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Syndactyly
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Rare Diseases
/
Fraser Syndrome
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Fetal Diseases
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Genetic Diseases, Inborn
/
Public Policy
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Respiratory Tract Diseases
/
Respiratory Tract Infections
/
Shock, Septic
Type of study:
Practice guideline
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Prognostic study
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Qualitative research
Aspects:
Social determinants of health
Limits:
Humans
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Female
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Male
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Adult
/
Pregnancy
/
Aged
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Infant
Country/Region as subject:
South America
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Brazil
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Europa
Language:
Spanish
/
English
/
Portuguese
Journal:
Rev. esp. patol
/
An. pediatr. (2003. Ed. impr.)
/
Arch. bronconeumol. (Ed. impr.)
/
Enferm. glob
/
Gac. sanit. (Barc., Ed. impr.)
/
Med. oral patol. oral cir. bucal (Internet)
/
Rev. fitoter
Year:
2022
/
2023
/
2024
/
2021
Document type:
Article
Institution/Affiliation country:
Hospital Clínico Universitario Virgen de la Arrixaca/España
/
A.C. Camargo Cancer Center/Brazil
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Asociación #CienciaenelParlamento/España
/
Centro Universitário Hermínio Ometto -UNIARARAS/Brasil
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Hospital Universitario de Burgos/España
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Unicamp/Brazil
/
Universidad Autónoma de Nuevo León/México
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Universidad Estadual de Feira de Santana/Brasil
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Universidad Estadual del Sudoeste de Bahia/Brasil
/
University of Dundee/UK