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.

journal_name

Pediatr Surg Int

authors

Fairbanks T,Emil S

doi

10.1007/s00383-005-1426-5

subject

Has Abstract

pub_date

2005-08-01 00:00:00

pages

662-4

issue

8

eissn

0179-0358

issn

1437-9813

journal_volume

21

pub_type

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