A Case of Rhizomelic Chondrodysplasia Punctata.
- Author:
Yeon Dong LEE
;
Moon Young SONG
;
Hyun Hi KIM
;
Seung Hoon HAN
;
Won Bae LEE
- Publication Type:Case Report
- MeSH:
Cartilage;
Cataract;
Chondrodysplasia Punctata;
Chondrodysplasia Punctata, Rhizomelic*;
Congenital, Hereditary, and Neonatal Diseases and Abnormalities;
Extremities;
Female;
Humans;
Infant;
Skin
- From:Journal of the Korean Pediatric Society
1994;37(9):1312-1316
- CountryRepublic of Korea
- Language:Korean
-
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.
