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

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.