TY - JOUR
T1 - Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency
T2 - A newly recognised immuno-osseous dysplasia
AU - Castriota-Scanderbeg, Alessandro
AU - Mingarelli, Rita
AU - Caramia, Giuseppe
AU - Osimani, Patrizia
AU - Lachman, Ralph S.
AU - Rimoin, David L.
AU - Wilcox, William R.
AU - Dallapiccola, Bruno
PY - 1997
Y1 - 1997
N2 - 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.
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.
KW - SCID
KW - Short limbed dwarfism
KW - Spondylo-acrodysplasia
UR - http://www.scopus.com/inward/record.url?scp=0030773288&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0030773288&partnerID=8YFLogxK
M3 - Article
C2 - 9350822
AN - SCOPUS:0030773288
VL - 34
SP - 854
EP - 856
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
SN - 0022-2593
IS - 10
ER -