Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient
Syndromic microphthalmia-3 is a rare congenital syndrome associated with brain anomalies, esophageal atresia and genital anomalies. This is the case of a 4-year-old male with bilateral microphthalmia, short stature, neurodevelopmental delay, genital anomalies, and maternal exposition to glyphosate d...
- Autores:
-
Pachajoa Londoño, Harry Mauricio
Ramirez-Botero, Andrés Felipe
- Tipo de recurso:
- Article of investigation
- Fecha de publicación:
- 2016
- Institución:
- Universidad ICESI
- Repositorio:
- Repositorio ICESI
- Idioma:
- eng
- OAI Identifier:
- oai:repository.icesi.edu.co:10906/82296
- Acceso en línea:
- http://doi.wiley.com/10.1111/cga.12170
http://hdl.handle.net/10906/82296
http://dx.doi.org/10.1111/cga.12170
- Palabra clave:
- Malformaciones congénitas
Gen SOX2
Microftalmia sindrómica
Ciencias socio biomédicas
Biomedical sciences
- Rights
- openAccess
- License
- https://creativecommons.org/licenses/by-nc-nd/4.0/
| Summary: | Syndromic microphthalmia-3 is a rare congenital syndrome associated with brain anomalies, esophageal atresia and genital anomalies. This is the case of a 4-year-old male with bilateral microphthalmia, short stature, neurodevelopmental delay, genital anomalies, and maternal exposition to glyphosate during pregnancy. Genetic testing detected a previously reported pathogenic heterozygous mutation in the SOX2 gene, confirming a diagnosis of syndromic microphthalmia-3. Whenever a patient presents bilateral microphthalmia, it is necessary to determine whether it is isolated or syndromic; afterwards, genetic testing should be performed in order to offer an effective genetic counseling. |
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