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Case Report
A Case of Rhizomelic Chondrodysplasia Punctata
Yeon Dong Lee, Moon Young Song, Hyun Hi Kim, Seunghoon Han, Wonbae Lee
Clin Exp Pediatr. 1994;37(9):1312-1316.   Published online September 15, 1994
Chondrodysplasia punctata is a rare congenital disorder of bone, occuring in infants, which is characterized by raiographic manifestation of premature deposition of punctate calcific densitiy in epiphyseal areas, preformed in carilage. 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...


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