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. 2014:2014:879679.
doi: 10.1155/2014/879679. Epub 2014 Mar 9.

A case of rhizomelic chondrodysplasia punctata in newborn

Nalan Karabayır  1 , Gonca Keskindemirci  1 , Erdal Adal  1 , Orhan Korkmaz  2
Affiliations

A case of rhizomelic chondrodysplasia punctata in newborn

Nalan Karabayır et al. Case Rep Med. 2014.

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.

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Figures

Figure 1
Figure 1
Proximal shortness, thick and short diaphyses, large and irregular metaphyses, and punctate calcifications in the epiphyses in the long bones and coronal clefts not included in the vertebral bodies.
Figure 2
Figure 2
On the cervical spinal MRI, spinal stenosis at C4-5, C5-6, and C6-7 levels.
See this image and copyright information in PMC

References

    1. Bams-Mengerink AM, Koelman JH, Waterham H, Barth PG, Poll-The BT. The neurology of rhizomelic chondrodysplasia punctata. Orphanet Journal of Rare Diseases. 2013;8(1, article 174) - PMC - PubMed
    1. Irving MD, Chitty LS, Mansour S, Hall CM. Chondrodysplasia punctata: a clinical diagnostic and radiological review. Clinical Dysmorphology. 2008;17(4):229–241. - PubMed
    1. Yalin CT, Bayrak IK, Danaci M, Incesu L. Case report: rhizomelic chondrodysplasia punctata and foramen magnum stenosis in a newborn. Turkish Journal of Diagnostic and Interventional Radiology. 2003;9(1):100–103. - PubMed
    1. Morrison SC. Punctate epiphyses associated with Turner syndrome. Pediatric Radiology. 1999;29(6):478–480. - PubMed
    1. Leicher-Duber A, Schumacher R, Spranger J. Stippled epiphyses in fetal alcohol syndrome. Pediatric Radiology. 1990;20(5):369–370. - PubMed

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