Chondrodysplasia Punctata in a Newborn; Rhizomelic Type: A Case Report

Chondrodysplasia punctata refers to a heterogenous group of conditions which share calcific stippling of cartilage and periarticuler soft tissues. Particularly punctuate calcification is seen in the heel in infancy. These disorders differ in clinical features, severity, inheritance pattern and radiological features. Various types like rhizomelic type (autosomal recessive), X linked dominant type, X linked recessive and Conradi-Hunerman syndrome are found.