| Autor: |
M, Schierenberg, W, Donné, P, Schiafone, R, Bald, U, Gembruch, M, Hansmann, M, Rister |
| Jazyk: |
němčina |
| Rok vydání: |
1994 |
| Předmět: |
|
| Zdroj: |
Klinische Padiatrie. 206(6) |
| ISSN: |
0300-8630 |
| Popis: |
We report about a premature infant with a De Barsy-Moens-Dierckx-syndrome, which is a rare cutaneo-oculo-cerebral malformation-syndrome. It is defined by the combination of a progeroid aspect, cutis laxa, growth retardation, cornea clouding, mental retardation and athetoid movements. Furthermore, the reported case showed a remarkable thermolability and suffered from generalised seizures resistant to therapy. Despite extensive sonographic examinations the prepartal diagnosis seems to be very difficult. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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