Brachytelephalangic chondrodysplasia punctata: A case report

Brachytelephalangic chondrodysplasia punctata is a rare congenital skeletal dysplasia with in the heterogenous group of chondrodysplasia punctata. we report the case of a 17 days old male baby affected by milder form of chondrodysplasia punctata,brachytelephalangic type,a rare condition radiologically characterized by punctate calcifications in the cartilage (mainly the epiphyseal). we are reporting this case because it is a rare disease by the office of rare diseases ord of the nih with the incidence of less than 1: 10,000.