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Pediatr Surg Int. 2005 Aug;21(8):662-4. Epub 2005 Oct 13.

Colonic perforation in the first few hours of life associated with rhizomelic chondrodysplasia punctata.

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  • 1Division of Pediatric Surgery, University of California, Irvine School of Medicine, Bldg. 53, Rt. 81, 101 The City Drive, Orange, CA 92868, USA.


Rhizomelic chondrodysplasia punctata (RCP), a rare autosomal recessive disease characterized by a disorder of peroxisome metabolism, has been shown to affect multiple organ systems. A neonate presenting with a colonic perforation in the first few hours of life was subsequently diagnosed with RCP. A literature search revealed no previous reports of intestinal perforation associated with RCP. Intestinal perforation should be added to the list of medical complications associated with RCP.

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