A Case of Chondrodysplasia Punctata.
- Author:
Hee Jin PARK
1
;
Jin Beum JANG
;
Eun Kyung JEE
Author Information
1. Department of Obstetrics and Gynecology, College of Medicine Pochon CHA University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Chondrodysplasia punctata
- MeSH:
Cartilage;
Chondrodysplasia Punctata*;
Chondrodysplasia Punctata, Rhizomelic;
Congenital, Hereditary, and Neonatal Diseases and Abnormalities;
Fetus;
Humans;
Infant;
Pregnancy
- From:Korean Journal of Obstetrics and Gynecology
2004;47(9):1779-1783
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Chondrodysplasia Punctata is a rare congenital disorder of bone in infant, which is characterized by radiographic manifestation of premature deposition of punctata calcific density in epiphyseal areas, preformed in cartilage. Chondrodysplasia Punctata includes two different disorders: a rhizomelic, potentially lethal variety and a nonrhizomelic variety (Conradi-Hunermann syndrome) which is more common and generally benign. These two conditions have different clinical, genetic, and radiographic characteristics. We experienced a case of rhizomelic Chondrodysplasia Punctata (RCDP) in a fetus of intrauterine pregnancy at 19 weeks who was terminated because of ultrasonographic demonstration of gross skeletal and midfacial anomaly. Thus, we report a case with brief review of the literature.
