A Case of Rhizomelic Chondrodysplasia Punctata Occurring in Siblings.
- Author:
Soon Hwa YOON
1
;
Nam Young KIM
;
Seon Hee SHIN
;
Sung Koo KIM
;
Kon Hee LEE
;
Hae Sun YOON
;
Jung Eun KIM
Author Information
1. Department of Pediatrics, College of Medicine, Hallym University, Seoul, Korea. ysh1027@orgio.net
- Publication Type:Case Report
- Keywords:
Chondrodysplasia punctata;
Rhizomelic;
Radiographic magnifications;
Siblings
- MeSH:
Infant, Newborn;
Humans
- From:Korean Journal of Pediatrics
2004;47(9):1016-1019
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Chondrodysplasia punctata is a group of heterogeneous bone dysplasia characterized by punctate calcifications of the cartilage, frequently associated with a shortening of the limbs, cataracts, icthyosis and alopecia, alterations of the nervous system, and mental and growth deficiencies. Our case presented findings of the rhizomelic chodrodysplasia punctata : a characteristic face, a sucking difficulty and a short neck. Skeletal radiographies showed punctate calcification and stippling on femurs, lumbar vertebral bodies and vertebral coronal cleft. According to his family history, his brother, who had the same characteristic face and punctate calcification at the neonatal period, died at the age of six months due to respiratory failure. The rhizomelic form of chondrodysplasia puntata is rare, the prognosis is bad and death usually occurs within the first year of age. We report a case of rhizomelic chondrodysplasia punctata occurring in siblings diagnosed by clinical and radiological criteria.
