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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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051096 | PMC |
| http://dx.doi.org/10.1136/jmg.34.10.854 | DOI Listing |
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