Medicine: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

Types

Rhizomelic chondrodysplasia punctata Online Mendelian Inheritance in Man (OMIM) 215100, Online Mendelian Inheritance in Man (OMIM) 222765, Online Mendelian Inheritance in Man (OMIM) 600121
X-linked recessive chondrodysplasia punctata Online Mendelian Inheritance in Man (OMIM) 302950
Conradi–Hünermann syndrome (chondrodysplasia punctata 2, x-linked dominant) Online Mendelian Inheritance in Man (OMIM) 302960
Autosomal dominant chondrodysplasia punctata Online Mendelian Inheritance in Man (OMIM) 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.

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Original source: https://en.wikipedia.org/wiki/Chondrodysplasia punctata. Read more

[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.

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