PT  - JOURNAL ARTICLE
AU  - A Castriota-Scanderbeg
AU  - R Mingarelli
AU  - G Caramia
AU  - P Osimani
AU  - R S Lachman
AU  - D L Rimoin
AU  - W R Wilcox
AU  - B Dallapiccola
TI  - Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia.
AID  - 10.1136/jmg.34.10.854
DP  - 1997 Oct 01
TA  - Journal of Medical Genetics
PG  - 854--856
VI  - 34
IP  - 10
4099  - http://jmg.bmj.com/content/34/10/854.short
4100  - http://jmg.bmj.com/content/34/10/854.full
SO  - J Med Genet1997 Oct 01; 34
AB  - 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.