Chondrodysplasia punctata
Chondrodysplasia punctata | |
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Specialty | Medical genetics |
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
Types include:
- Rhizomelic chondrodysplasia punctata Template:OMIM2, Template:OMIM2, Template:OMIM2
- X-linked recessive chondrodysplasia punctata Template:OMIM2
- Conradi-Hünermann syndrome Template:OMIM2
- Autosomal dominant chondrodysplasia punctata Template:OMIM2
See also
References
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
- ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
External links