A Case of Chondrodysplasia Punctata.

Park, Hee Jin; Jang, Jin Beum; Jee, Eun Kyung

Case Report

Korean Journal of Obstetrics & Gynecology 2004;47(9):1779-1783.
Published online September 1, 2004.

A Case of Chondrodysplasia Punctata.

Hee Jin Park, Jin Beum Jang, Eun Kyung Jee

¹Department of Obstetrics and Gynecology, College of Medicine Pochon CHA University, Seoul, Korea.
²Department of Radiology, College of Medicine Pochon CHA University, Seoul, Korea.

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.

Key Words: Chondrodysplasia punctata