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Case Reports in Medicine
Volume 2014, Article ID 879679, 3 pages
http://dx.doi.org/10.1155/2014/879679
Case Report

A Case of Rhizomelic Chondrodysplasia Punctata in Newborn

1Pediatrics Department, Bakırköy Maternity and Children Education and Research Hospital, Kartaltepe mah Aksoy sok. Petrol Sitesi 6/11 Bakırköy, Istanbul, Turkey
2Radiology Department, Bakırköy Maternity and Children Education and Research Hospital, Turkey

Received 13 October 2013; Revised 26 January 2014; Accepted 28 January 2014; Published 9 March 2014

Academic Editor: Simon Ching-Shun Kao

Copyright © 2014 Nalan Karabayır et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Rhizomelic chondrodysplasia punctate (RCDP) is a rare autosomal recessive peroxisomal disease. The main features of the disease are shortening of the proximal long bones, punctate calcifications located in the epiphyses of long bones and in soft tissues around joints and vertebral column, vertebral clefting, dysmorphic face, and severe growth retardation, whereas cervical spinal stenosis may also rarely be present. Imaging of the brain and spinal cord in patients with this disorder may aid prognosis and guide management decisions. We report the newborn diagnosed as CDP with cervical stenosis. Our aim is to discuss current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases associated with CDP.