All issues > Volume 37(9); 1994
- Case Report
- J Korean Pediatr Soc. 1994;37(9):1312-1316. Published online September 15, 1994.
- A Case of Rhizomelic Chondrodysplasia Punctata
- Yeon Dong YD Lee1, Moon Young MY Song1, Hyun Hi HH Kim1, Seunghoon Sh Han1, Wonbae Wb Lee1
- 1Department of Pediatrics, Catholic University Medical College, seoul, Korea
- Abstract
- 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 clefts in lumbar vertebral bodies on X-ray.
Keywords :Chondrodysplsia punctata, Rhizomelic type