 |
 |
 |
|
 |
|
 |
 |
 |
 |
 |
Beals-Hecht-Syndrom
|
| |||||||||||
|
| ||||||||||||
|
Beals-Hecht-Syndrom
|
||||||||||||
|
| Einleitung | ||
Synonym |
Dutch-Kentucky-Syndrom |
|
 |
||
Englisch |
|
|
|
||
ICD10 |
|
|
|
||
Definition |
|
|
|
||
Klassifikationen |
|
|
|
||
| ||
| Epidemiologie | ||
Inzidenz |
|
|
|
||
Prävalenz |
1:50.000 |
|
|
||
Alter |
|
|
|
||
Häufigkeitsgipfel |
|
|
|
||
Geschlecht |
|
|
|
||
Ethnologie |
|
|
|
||
| ||
| Pathologie | ||
Ätiologie |
|
|
|
||
Risikofaktoren |
|
|
|
||
Vererbung |
autosomal-dominant |
|
|
||
Chromosom |
5 |
|
|
||
Pathogenese |
|
|
|
||
Molekularer Hintergrund |
Defekt im Fibrillin-2-Gen |
|
|
||
Makroskopie |
|
|
|
||
Mikroskopie |
|
|
|
||
| ||
| Diagnostik und Workup | ||
Kriterien |
|
|
|
||
Diagnostik |
|
|
|
||
Körperliche Untersuchung |
|
|
|
||
Bildgebung |
|
|
|
||
Blut |
|
|
|
||
Weitere Diagnostik |
|
|
|
||
Nachsorge |
|
|
|
||
Meldepflicht |
|
|
|
||
Pränataldiagnostik |
|
|
|
||
| ||
| Symptome und Befunde | ||
|
Gelenkkontrakturen |
||
|
||
|
abnormale Ohrenform |
||
|
||
|
kein Aortenaneurysma |
||
|
||
|
keine Linsenluxation |
||
|
||
| ||
| Verlauf und Prognose | ||
Stadien |
|
|
|
||
Verlauf |
|
|
|
||
Komplikationen |
|
|
|
||
Prognose |
|
|
|
||
Prophylaxe |
|
|
|
||
| ||
| Differentialdiagnosen | ||
|
||
| ||
| Therapien | ||
|
||
| ||
| Referenzen | ||
Lehrbuch |
||
|
||
Reviews |
||
|
||
Studien |
||
|
||
Links |
||
|
||
Adressen |
||
| ||
| Editorial | ||
Autor |
||
|
||
Erstellt |
19.01.2003 |
|
|
||
Reviewer |
||
|
||
Linker |
||
|
||
Status |
TRACK3 |
|
|
||
Licence |
||
| ||
| Kommentare | ||
| ||
| |||||||||
