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chondrodysplasia punctata : ウィキペディア英語版
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.〔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.〕
Types include:
* Rhizomelic chondrodysplasia punctata , ,
* X-linked recessive chondrodysplasia punctata
* Conradi-Hünermann syndrome
* Autosomal dominant chondrodysplasia punctata
== See also ==

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

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「chondrodysplasia punctata」の詳細全文を読む



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