title: 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.
authors.affiliation: Department of Radiology, Scientific Institute S Lucia, Rome, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Castriota-Scanderbeg
authors.forename: R
authors.initials: R
authors.lastname: Mingarelli
authors.forename: G
authors.initials: G
authors.lastname: Caramia
authors.forename: P
authors.initials: P
authors.lastname: Osimani
authors.forename: R S
authors.initials: RS
authors.lastname: Lachman
authors.forename: D L
authors.initials: DL
authors.lastname: Rimoin
authors.forename: W R
authors.initials: WR
authors.lastname: Wilcox
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D005260:Female; D006801:Humans; D007223:Infant; D004204:Joint Dislocations; D007596:Joints / Q000002:abnormalities*; D017880:Limb Deformities, Congenital; D008159:Lumbar Vertebrae / Q000002:abnormalities; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging; D011859:Radiography; D016511:Severe Combined Immunodeficiency