Journal of the Korean Pediatric Society 2001;44(8):965-970.
Published online August 15, 2001.
Chondrodysplasia Punctata(Rhizomelic Type) Associated with Pneumothorax
Ji Sun Mok, Hye Won Hwang, Jin Eun Kim, Dong Seok Lee, Doo Kwun Kim, Seong Min Choi
Department of Pediatrics, School of Medicine, Dongguk University, Kyungju, Korea
기흉이 동반된 Rhizomelic형 점상 연골 이형성증 1례
목지선, 황혜원, 김지은, 이동석, 김두권, 최성민
동국대학교 의과대학 소아과학교실
Chondrodysplasia punctata is a rare congenital syndrome caused by a peroxisomal dysfunction. Chondrodysplasia punctata is classified into four main types-Coradi-Hunermann's type, rhizomelic type, X-linked dominant form and X-linked recessive form. A male patient with this condition was born at 39 weeks gestation, the pregnancy being complicated by polyhydroamnios, breech presentation, and anomalies of congenital limbs. At delivery, there was no activity and no initial crying. Physical examination revealed a flat nose, a short neck, scaled ichthyolytic skin, and bilaterally symmetrical shortening of the upper and lower extremities. Choromosomal analysis revealed a 46, XY karyotype. Radiologic examination disclosed stippling of the cartilage on the epiphyseal regions of the long bones, paravertebral regions, carpal bones and tarsal bones. In additions, a chest x-ray showed right pneumothorax. Chest and endotracheal tubes were inserted. However, the patient died due to respiratory failure at 19 days of life. We report a case of rhizomelic type of chondrodysplasia punctata assocoated with pneumothorax with a brief review of the related literatures.
Key Words: Chondrodysplasia punctata, Rhizomelic type, Pneumothorax

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