title: Colonic perforation in the first few hours of life associated with rhizomelic chondrodysplasia punctata.
abstract: 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.
authors.affiliation: Division of Pediatric Surgery, University of California, Irvine School of Medicine, Bldg. 53, Rt. 81, 101 The City Drive, Orange, CA 92868, USA.
authors.forename: Timothy
authors.initials: T
authors.lastname: Fairbanks
authors.forename: Sherif
authors.initials: S
authors.lastname: Emil
mesh_terms: D018902:Chondrodysplasia Punctata, Rhizomelic / Q000150:complications* / Q000175:diagnosis; D003108:Colonic Diseases / Q000175:diagnosis / Q000209:etiology*; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D007416:Intestinal Perforation / Q000175:diagnosis / Q000209:etiology*; D008297:Male