Prenatal diagnosis of hypoplasia of the corpus callosum in association with non-ketotic hyperglycinemia
| Autor: | P. Sonigo, M. Molho, Yves Ville, R. Lenclen, L. Bidat, A. Paupe |
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| Rok vydání: | 2002 |
| Předmět: |
endocrine system
congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Radiological and Ultrasound Technology Hyperglycinemia business.industry Obstetrics and Gynecology Prenatal diagnosis General Medicine medicine.disease Corpus callosum Hypoplasia nervous system diseases Central nervous system disease nervous system Reproductive Medicine Agenesis mental disorders medicine Ketotic hyperglycinemia Radiology Nuclear Medicine and imaging Abnormality business |
| Zdroj: | Ultrasound in Obstetrics and Gynecology. 20:616-619 |
| ISSN: | 0960-7692 |
| DOI: | 10.1046/j.1469-0705.2002.00869.x |
| Popis: | Abnormalities of the corpus callosum are often associated with a poor prognosis due to the anatomical defect itself and associated anomalies that include malformations and inherited metabolic disorders. We report a case of the prenatal diagnosis of hypoplasia of the corpus callosum that was associated with non-ketotic hyperglycinemia. Metabolic disorders are a known association with corpus callosum abnormalities and carry a dismal prognosis. A diagnosis of non-ketotic hyperglycinemia should be considered when a fetus presents with an abnormality of the corpus callosum. A literature search reviews other inherited diseases associated with hypoplasia of the corpus callosum. |
| Databáze: | OpenAIRE |
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