| Nonrhizomelic Type of Chondrodysplasia Punctata
Suspected in the Brothers |
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Jeum-Su Kim, Hae-Seoung Jung, Yong-Suk Kim, Chan-Hoo Park, Myoung Bum Choi, Hyang-Ok Woo, Hee-Shang Youn |
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Departments of Pediatrics, College of Medicine, Gyeongsang National University, Chinju, Korea |
| 형제에서 발생한 것으로 추정되는 Nonrhizomelic형의Chondrodysplasia Punctata |
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김점수, 정혜성, 김용숙, 박찬후, 최명범, 우향옥, 윤희상 |
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경상대학교 의과대학 소아과학교실 |
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| Abstract |
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Chondrodysplasia punctata is a heterogenous skeletal dysplasia characterized by small focal calcifications in articular and other cartilages in infancy, with subsequent epiphysial dysplasia and associated anomalies of the face, eyes, and skin. Chondrodysplasia punctata is classified with autosomal recessive rhizomelic type, autosomal dominant nonrhizomelic type(Conradi-Hunermann type), and X-linked dominant type. These types have different clinical manifestations respectively. We report cases of autosomal dominant type of chondrodysplasia punctata which occurred in brothers, who were presented with typical face(short collumella leading to depressed tip of the nose), punctate calcification on the lumbar spine, dislocation of right hip, no obvious skin lesions, and atropic optic nerve without cataracts. |
| Key Words:
Chondrodysplasia punctata, Nonrhizomelic type |
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