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

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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.

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Castriota-Scanderbeg, A., Mingarelli, R., Caramia, G., Osimani, P., Lachman, R. S., Rimoin, D. L., … Dallapiccola, B. (1997). Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: A newly recognised immuno-osseous dysplasia. Journal of Medical Genetics, 34(10), 854–856. https://doi.org/10.1136/jmg.34.10.854

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