Clinical and Experimental Pediatrics

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Seong Min Choi (Choi SM)

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Case Report

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

Clin Exp Pediatr. 2001;44(8):965-970. Published online August 15, 2001

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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