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CHONDRODISPLASIA PUNCTATA

Journal: University Journal of Surgery and Surgical Specialities (Vol.5, No. 6)

Publication Date:

Authors : ;

Page : 126-127

Keywords : chondrodysplasia punctata; rhizomelic; epiphysis;

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Abstract

Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Erich Conradi (18821968), that share the features of stippled epiphyses and skeletal changes, affecting growth, cns, craniofacial .Consists four types ,Autosomal recessive chondrodysplasia punctata ,X-linked dominant chondrodysplasia punctata ,X-linked recessive chondrodysplasia punctata ,Autosomal dominant chondrodysplasia punctata

Last modified: 2019-08-05 16:14:48