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

• List of cutaneous conditions
• List of radiographic findings associated with cutaneous conditions

References

1. Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
2. James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.

External links