Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia.
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.
Castriota-Scanderbeg
A
A
Department of Radiology, Scientific Institute S Lucia, Rome, Italy.
Mingarelli
R
R
Caramia
G
G
Osimani
P
P
Lachman
R S
RS
Rimoin
D L
DL
Wilcox
W R
WR
Dallapiccola
B
B
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