Chondrodysplasia punctata
Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Erich Conradi (1882–1968), that share the features of stippled epiphyses and skeletal changes.[1]: 500 [2]: 549
| Chondrodysplasia punctata | |
|---|---|
| Specialty | Medical genetics  | 
Types
     
- Rhizomelic chondrodysplasia punctata 215100, 222765, 600121
 - X-linked recessive chondrodysplasia punctata 302950
 - Conradi–Hünermann syndrome (chondrodysplasia punctata 2, x-linked dominant) 302960
 - Autosomal dominant chondrodysplasia punctata 118650
 
See also
    
    
References
    
    
External links
    
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