X-chromosomaler rezessiver Hydrocephalus internus: Ein eigenständiges Krankheitsbild?
| Autor: | Anja Krämer, Hubert Fahnenstich, F. Haverkamp, Klaus Zerres |
|---|---|
| Rok vydání: | 1996 |
| Předmět: |
Pediatrics
medicine.medical_specialty business.industry MASA syndrome Context (language use) medicine.disease nervous system diseases Hydrocephalus Surgery Central nervous system disease Pediatrics Perinatology and Child Health Spastic Medicine Spasticity Family history medicine.symptom business Paraplegia |
| Zdroj: | Klinische Pädiatrie. 208:93-96 |
| ISSN: | 1439-3824 0300-8630 |
| DOI: | 10.1055/s-2008-1044002 |
| Popis: | Two patients with X-chromosomal hydrocephalus internus (aqueduct stenosis, clasped thumbs, mental retardation and spasticity) habe been described. In both cases the family history revealed further affected relatives. The intra- and interfamilial variability of this rare X-chromosomal recessive disease will be demonstrated. In this context differentialdiagnoses like X-linked MASA syndrome and X-linked spastic paraplegia have been discussed on the basis of a variable expressivity of different mutations in the same gene. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|