Clinical and Experimental Pediatrics

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Nam Young Kim (Kim NY)

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Case Report

A Case of Rhizomelic Chondrodysplasia Punctata Occurring in Siblings

Soon Hwa Yoon, Nam Young Kim, Seon Hee Shin, Sung Koo Kim, Kon Hee Lee, Hae Sun Yoon, Jung Eun Kim

Clin Exp Pediatr. 2004;47(9):1016-1019. Published online September 15, 2004

Chondrodysplasia punctata is a group of heterogeneous bone dysplasia characterized by punctate calcifications of the cartilage, frequently associated with a shortening of the limbs, cataracts, icthyosis and alopecia, alterations of the nervous system, and mental and growth deficiencies. Our case presented findings of the rhizomelic chodrodysplasia punctata : a characteristic face, a sucking difficulty and a short neck. Skeletal radiographies...

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