Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia.
case_report · Level V
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- Record sourced from PubMed, PMID 9350822.
- Also identified by PMC identifier 1051096.
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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.
Medical subject headings
- Joints
- Limb Deformities, Congenital
- Osteochondrodysplasias
- Severe Combined Immunodeficiency