Syndromic growth retardation caused by impaired function of the ribosomal protein eL13

Abstract

Growth retardation for more than 2 SD below the average population or presumed familial target height is classified as ashort stature and may be a clinical manifestation of a large number of disorders. The use of the latest methods of molecular genetic analysis in recent years has allowed for a better understanding of the pathogenesis of inherited forms of a short stature. One of the recently discovered mechanisms of this pathology was monoallelic mutations inRPL13gene, leading to thedevelopment of Isidor-Toutain type spondyloepimetaphyseal dysplasia (SEDM).Characteristic phenotypic features for this form are normal birth length, early postnatal growth deficiency, platyspondyly, proximal femoral epiphyseal changes, coxa vara, genu varum. This study presents the clinical and radiological characteristics of the first patient in the Russian -Federation with SEMD caused by a mutation inRPL13gene.