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  • Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia.

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Research Article
Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia.
  1. A Castriota-Scanderbeg,
  2. R Mingarelli,
  3. G Caramia,
  4. P Osimani,
  5. R S Lachman,
  6. D L Rimoin,
  7. W R Wilcox,
  8. B Dallapiccola
  1. Department of Radiology, Scientific Institute S Lucia, Rome, Italy.

    Abstract

    A newborn girl is described with an association of spondylo-acrodysplasia, mild short limbed dwarfism without significant metaphyseal changes, joint dislocations, and severe immune system dysfunction. This association is distinct from other known immuno-osseous dysplasias, including Schimke dysplasia, ADA deficiency with osseous changes, and Omenn phenotype with short limbed dwarfism.

    http://dx.doi.org/10.1136/jmg.34.10.854

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