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A Case of Rhizomelic Chondrodysplasia Punctata in Newborn
Joint Authors
Korkmaz, Orhan
Karabayır, Nalan
Adal, Erdal
Keskindemirci, Gonca
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-03-09
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Karabayır, Nalan& Keskindemirci, Gonca& Adal, Erdal& Korkmaz, Orhan. 2014. A Case of Rhizomelic Chondrodysplasia Punctata in Newborn. Case Reports in Medicine،Vol. 2014, no. 2014, pp.1-3.
https://search.emarefa.net/detail/BIM-505666
Modern Language Association (MLA)
Karabayır, Nalan…[et al.]. A Case of Rhizomelic Chondrodysplasia Punctata in Newborn. Case Reports in Medicine No. 2014 (2014), pp.1-3.
https://search.emarefa.net/detail/BIM-505666
American Medical Association (AMA)
Karabayır, Nalan& Keskindemirci, Gonca& Adal, Erdal& Korkmaz, Orhan. A Case of Rhizomelic Chondrodysplasia Punctata in Newborn. Case Reports in Medicine. 2014. Vol. 2014, no. 2014, pp.1-3.
https://search.emarefa.net/detail/BIM-505666
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-505666