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01-02-2017 | Test Yourself: Answer

Newborn with rhizomelia and difficulty breathing

Authors: Evelina Maines, Laura Baggio, Giorgia Gugelmo, Grazia Morandi, Andrea Bordugo

Published in: Skeletal Radiology | Issue 2/2017

Excerpt

Chest radiograph highlighted bilateral shortening of the humerus, periarticular and epiphyseal calcifications, large and irregular metaphyses and slightly narrow chest, suggesting the diagnosis of rhizomelic chondrodysplasia punctata (RCDP), a rare autosomal recessive peroxisomal disease with an estimated incidence of 1:100,000 births [1]. …

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Irving MD, Chitty LS, Mansour S, Hall CM. Chondrodysplasia punctata: a clinical diagnostic and radiological review. Clin Dysmorphol. 2008;17(4):229–41.CrossRefPubMed

Klouwer FCC, Huffnagel IC, Ferdinandusse S, Waterham HR, Wanders RJ, Engelen M, et al. Clinical and biochemical pitfalls in the diagnosis of peroxisomal disorders. Neuropediatrics. 2016;47(4):205–20.CrossRefPubMed

White AL, Modaff P, Holland-Morris F, Pauli RM. Natural history of rhizomelic chondrodysplasia punctata. Am J Med Genet A. 2003;118A(4):332–42.CrossRefPubMed

Chitayat D, Keating S, Zand DJ, Costa T, Zackai EH, Silverman E, et al. Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases. Am J Med Genet A. 2008;146A(23):3038–53.CrossRefPubMed

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Nimmo G, Monsonego S, Descartes M, Franklin J, Steinberg S, Braverman N. Rhizomelic chondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1. Am J Med Genet A. 2010;152A(7):1812–7.CrossRefPubMed

Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, et al. Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis. Pediatr Radiol. 2015;458(7):965–76.CrossRef

Royal SA. Taybi and Lachman’s radiology of syndromes, metabolic disorders and skeletal dysplasias. 5th edn. Mosby Inc.; 2008. p. 901–910.

Title: Newborn with rhizomelia and difficulty breathing
Authors: Evelina Maines
Laura Baggio
Giorgia Gugelmo
Grazia Morandi
Andrea Bordugo
Publication date: 01-02-2017
Publisher: Springer Berlin Heidelberg
Published in: Skeletal Radiology / Issue 2/2017
Print ISSN: 0364-2348
Electronic ISSN: 1432-2161
DOI: https://doi.org/10.1007/s00256-016-2537-x

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