Chondrodysplasia punctata

Chondrodysplasia punctata
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

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

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

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[Fitz2-1] Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.

[Andrews-2] James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.

Chondrodysplasia punctata

Types

See also

References

External links