Fairbanks Timothy, Emil Sherif
Division of Pediatric Surgery, University of California, Irvine School of Medicine, Bldg. 53, Rt. 81, 101 The City Drive, Orange, CA 92868, USA.
Pediatr Surg Int. 2005 Aug;21(8):662-4. doi: 10.1007/s00383-005-1426-5. Epub 2005 Oct 13.
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.
肢根型点状软骨发育不良（RCP）是一种罕见的常染色体隐性疾病，其特征为过氧化物酶体代谢紊乱，已被证明会影响多个器官系统。一名在出生后最初几小时出现结肠穿孔的新生儿随后被诊断为RCP。文献检索显示，此前没有关于RCP相关肠穿孔的报道。肠穿孔应被添加到与RCP相关的医学并发症列表中。
