CXR
Paediatric radiology
Case TypeClinical Cases
AuthorsMcSherry P1, Paterson A1, O'Sullivan S2
Patient1 days, female
[1] Chen H (2nd) Chondrodysplasia punctata. in Atlas of Genetic Diagnosis and Counselling Springer Verlag, New York, NY, USA p345-355
[2] Bams-Mengerink AM, Koelman JH, Waterham H et al (2013) The neurology of rhizomelic chondrodysplasia punctata. Orphanet J Rare Dis 8:174 (PMID: 24172221)
[3] Braverman NE, Moser AB, Steinberg SJ et al Rhizomelic chondrodysplasia punctata type 1. GeneReviews (internet) Seattle (WA): University of Washington, Seattle; 1993-2014. 2001 Nov 16 [updated 2012 Sep 13]
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[5] Itzkovitz B, Jiralerspong S, Nimmo G et al (2012) Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3. Hum Mutat 33(1):189-197 (PMID: 21990100)
[6] Bams-Mengerink AM, Majoie CB, Duran M et al (2006) MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata. Neurology 66(6):798-803 (PMID: 16567694)
[7] Karabayir N, Keskindemirci G, Adal E et al (2014) A case of rhizomelic chondrodysplasia punctata in newborn. Case Rep Med 2014:879679 (PMID: 24715923)
[8] Khanna AJ, Braverman NE, Valle D et al (2001) Cervical stenosis secondary to rhizomelic chondrodysplasia punctata. Am J Med Genet 99:63-66 (PMID: 11170096)
URL: | https://eurorad.org/case/12388 |
DOI: | 10.1594/EURORAD/CASE.12388 |
ISSN: | 1563-4086 |