Osteochondrodysplasia of type campomelic dysplasia

Osteocondrodisplasia de tipo displasia campomélica

Published 2018-04-17

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Vol. 27 No. 1 (2018): Janaury - April
Section
Images in Pathology
How to Cite
Uribe MD, J. G., Mendoza MD, O., & Correa MD, J. (2018). Osteochondrodysplasia of type campomelic dysplasia. Journal of Medicine and Surgery Repertoire, 27(1), 47-48. https://doi.org/10.31260/RepertMedCir.v27.n1.2018.134
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https://doi.org/10.31260/RepertMedCir.v27.n1.2018.134
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Juan Guillermo Uribe MD
Pathology Service, University Hospital of San José, Bogotá D.C., Colombia.
    Oscar Mendoza MD
    Pathology Service, San José Hospital, Faculty of Medicine, University Foundation of Health Sciences, Bogotá D.C., Colombia.
      Jennifer Correa MD
      University Foundation of Health Sciences, Bogotá D.C., Colombia.
        Show authors biography
        Campomelic dysplasia (CD) is a type of osteochondrodysplasia or disorder of skeletal development with autosomal dominant inheritance. It is characterized by angulation of the limbs along with cardiopulmonary, orofacial and neurological alterations. Mutations involving the SOX9 gene are responsible for CD in most affected individuals. A case of CD is presented in a boy born at 24 weeks of gestational age to a 22-year-old mother.

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        1. Marcos Lima., Rodríguez Sotillo C, Rodríguez A. Displasia campomélica: reporte de caso. Rev Obstet Ginecol Venez 2008; v.68 n.3.
        2. Khoshhal K, Letts RM. Orthopaedic manifestations of campomelic dysplasia. Clin Orthop Relat Res. 2002;401:65-74.
        3. Alanay Y, Krakow D, Rimoin DL, Lachman RS. Angulated femurs and the skeletal dysplasias: Experience of the International Skeletal Dysplasia Registry (1988-2006). Am J Med Genet A. 2007;143:1159-1168.
        4. Gimovsky M, Rosa E, Tolbert T, Guzman G, Nazir M, Koscica K. Campomelic dysplasia: case report and review. J Perinatol. 2008; 28(1):71-3

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