One Case of Premature Baby with Atypical Chondrodysplasia Punctata

Ryu, Na Eun; Youm, Mi Hee; Cho, Chang Yee; Choi, Young Youn

Case Report

Journal of the Korean Society of Neonatology 2001;8(1):161-165.

Na Eun Ryu, Mi Hee Youm, Chang Yee Cho, Young Youn Choi

Department of Pediatrics, Chonnam University Medical School, Kwangju, Korea

미숙아에서 발견된 비전형적 점상 연골 이형성증 1례

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Corresponding author: Young Youn Choi, Tel: 062-220-6642, Fax: 062-222-6103,
Email: yychoi@chonnam.ac.kr

Abstract

Chondrodysplasia punctata is a rare congenital disorder of bone, which is characterized by radiologic manifestation of stippled calcification of hyaline cartilage and bones. We experienced a case of the chondrodysplasia punctata in a premature infant who showed saddle nose, stippled calcification on skeletal X-ray which disappeared at the age of 9 months after birth.

Key Words: Chondrodysplasia punctata, Stippled calcification, Premature infant