Chondrodystrophia Calcificans Congenita
10.4055/jkoa.1980.15.2.356
- Author:
Sung Keun SOHN
;
Seung Rim PARK
;
Chang Il PARK
;
Sun NAMGOONG
- Publication Type:Case Report
- Keywords:
Chondrodystrophia calcificans congenita
- MeSH:
Cartilage;
Chondrodysplasia Punctata;
Cleft Palate;
Contracture;
Extremities;
Hip Dislocation, Congenital;
Humans;
Hyoid Bone;
Infant;
Joints;
Nose;
Skin;
Thyroid Gland
- From:The Journal of the Korean Orthopaedic Association
1980;15(2):356-360
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Chondrodystrophia calcificans congenita is a rare disorder of bone, occuring in infants, which is characterized by radiographic manifestation of premature deposition of punctate calcific density in those epiphyseal areas, preformed in cartilage. Associated with this basic disturbance, following additional features have been reported: Asymetries in the lengths of the extremities, micromelia, rhizomelia, joint contractures, calcifications of the hyoid bone, thyroid and tracheal cartilage, saddle nose, cleft palate, congenital dysplasia of the hips, catarract, and dystrophic skin changes. A case of chondrodystrophia calcificans congenita is presented with a brief review of literatures.