CHONDRODISPLASIA PUNCTATA
Journal: University Journal of Surgery and Surgical Specialities (Vol.5, No. 6)Publication Date: 2019-08-02
Authors : SUMITRA VELLAIAMMAI K;
Page : 126-127
Keywords : chondrodysplasia punctata; rhizomelic; epiphysis;
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
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Last modified: 2019-08-05 16:14:48