COCKAYNE'S SYNDROME
| Autor: | Ian C. Lewis, Kenneth D. Fitch, William B. Macdonald |
|---|---|
| Rok vydání: | 1960 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Progeria S syndrome Hearing loss business.industry Familial disorder Dwarfism Disease medicine.disease Cockayne syndrome Inborn error of metabolism Pediatrics Perinatology and Child Health medicine medicine.symptom business |
| Zdroj: | Pediatrics. 25:997-1007 |
| ISSN: | 1098-4275 0031-4005 |
| DOI: | 10.1542/peds.25.6.997 |
| Popis: | A syndrome of heredo-familial dwarfism with multiple disturbances of growth and development is described in three of a family of five children. Since the original description by Cockayne 24 years ago, only one other family and one isolated case similarly affected, have been recorded. Although the syndrome resembles progeria in certain respects, it appears to be a distinct entity, with many features not found in progeria. This is supported by normal plasma lipids. The disorder may be due to an inborn error of metabolism, but attempts to identify the nature of this have not been successful. |
| Databáze: | OpenAIRE |
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