Rabia Abbas, Khawaja Ahmad Irfan Waheed, Tahir Masood Ahmad, Taeed Ahmad Butt.
Brachytelephalangic chondrodysplasia punctata: a case report.
Pak Paed J Jan ;34(3):160-2.

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.

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