- Case Report
- Chondrodysplasia Punctata(Rhizomelic Type)
Associated with Pneumothorax
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Ji Sun Mok, Hye Won Hwang, Jin Eun Kim, Dong Seok Lee, Doo Kwun Kim, Seong Min Choi
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Clin Exp Pediatr. 2001;44(8):965-970. Published online August 15, 2001
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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... |
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