A Case of Rhizomelic Chondrodysplasia Punctata

ABSTRACT

Chondrodysplasia punctata is a rare congenital disorder of bone, occuring in infants, which is characterized by radiographic manifestation of premature deposition of punctate calcific densitiy in epiphyseal areas, preformed in cartilage. We experienced a case of rhizomelic type-chondrodysplsia punctata in a two day old female who showed short stature, symmetric shortening of proximal limbs, cataract, icthyositic skin lesion and characteristic coronal clefts in lumbar vertebral bodies on X-ray.