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Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome
Author(s) -
Roifman Chaim M
Publication year - 1999
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.1999.550206.x
Subject(s) - dystrophy , dysplasia , phenotype , biology , antibody , genetics , osteochondrodysplasia , medicine , gene , anatomy
The clinical and laboratory combination of recurrent infections due to antibody deficiency, spondyloepiphyseal dysplasia, growth retardation and retinal dystrophy is novel. Four patients with strikingly similar phenotypes from three different families of diverse genetic backgrounds are described, suggesting a similar underlying genotype. Increased awareness of this syndrome will hopefully lead to the description of a larger number of affected individuals, which ultimately might be critical for its genetic characterization.