Syndromic microphthalmia-3 caused by a mutation on gene SOX2 in a Colombian male patient
| Autor: | Harry Pachajoa, Andrés Felipe Ramírez-Botero |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities Embryology Pediatrics medicine.medical_specialty Genetic counseling 030105 genetics & heredity Microphthalmia Short stature 03 medical and health sciences Medicine Genetic testing Pregnancy medicine.diagnostic_test business.industry Heterozygote advantage General Medicine medicine.disease eye diseases Atresia Pediatrics Perinatology and Child Health Mutation (genetic algorithm) sense organs medicine.symptom business Developmental Biology |
| Zdroj: | Congenital Anomalies. 56:250-252 |
| ISSN: | 0914-3505 |
| DOI: | 10.1111/cga.12170 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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