Neonatales progeroides Syndrom (Wiedemann-Rautenstrauch)
| Autor: | H.-R. Wiedemann, Friedemann Snigula, Th. Rautenstrauch |
|---|---|
| Rok vydání: | 1994 |
| Předmět: |
Progeria
Pediatrics medicine.medical_specialty business.industry Postnatal growth failure Prominent scalp veins Follow up studies medicine.disease Subcutaneous fat Neonatal teeth Surgery Neonatal Progeroid Syndrome Autosomal recessive trait medicine.anatomical_structure Pediatrics Perinatology and Child Health Medicine business |
| Zdroj: | Klinische Pädiatrie. 206:440-443 |
| ISSN: | 1439-3824 0300-8630 |
| DOI: | 10.1055/s-2008-1046647 |
| Popis: | The diagnostic criteria of the neonatal progeroid syndrome (NPS) are: intrauterine and postnatal growth failure, hydrocephalic appearance, prominent scalp veins, old-looking face, absence of subcutaneous fat and neonatal teeth. Until now altogether nine cases have been reported, which were predominant diagnosed in infant age. The NPS is in general assigned to the autosomal recessive trait. With increasing age the outward appearance stays unchanged. The in 1977 under diagnose progeria presented patient is now 16 years old. With her a considerable atactic movement disturbance developed next to a psychomotoric retardation. The change in metabolism of proteoglycane that was remarkable in infant age is now no longer provable. |
| Databáze: | OpenAIRE |
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