Facial anomalies inD-2-hydroxyglutaric aciduria
| Autor: | Pascale de Lonlay, Christine Francannet, Arnold Munnich, Jeanne Amiel, Nanda M. Verhoeven, Daniel Rabier, Stanislas Lyonnet, Cornelis Jakobs, Henri Bruel, Alain Picard, Martine Le Merrer |
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| Rok vydání: | 1999 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty Genetic heterogeneity business.industry Epileptic encephalopathy Encephalopathy nutritional and metabolic diseases Broad nasal bridge medicine.disease Dermatology Organic aciduria Central nervous system disease Epilepsy Endocrinology Internal medicine medicine D-2-hydroxyglutaric aciduria business Genetics (clinical) |
| Zdroj: | American Journal of Medical Genetics. 86:124-129 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/(sici)1096-8628(19990910)86:2<124::aid-ajmg7>3.0.co;2-q |
| Popis: | D-2-hydroxyglutaric aciduria is a rare autosomal recessive organic aciduria with variable clinical expression. The biochemical defect is still unknown, and genetic heterogeneity has been suggested. Here, we report on facial anomalies in two unrelated cases of D-2-hydroxyglutaric aciduria presenting with epileptic encephalopathy. In a review, we found that minor facial anomalies have been mentioned in three patients. A flat face with a broad nasal bridge and external ear anomalies were present in our patients and in reported cases. We suggest giving consideration to D-2-hydroxyglutaric aciduria as a cause of minor facial anomalies in epileptic encephalopathy of unknown origin. |
| Databáze: | OpenAIRE |
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