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Osteochondrodysplasia of type campomelic dysplasia

Osteocondrodisplasia de tipo displasia campomélica




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Images in Pathology

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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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Juan Guillermo Uribe MD
    Oscar Mendoza MD
      Jennifer Correa MD

        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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