Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation.

The HNRNPH2-associated disease (mental retardation, X-linked, syndromic, Bain type [MRXSB, MIM #300986]) is caused by de novo mutations in the X-linked HNRNPH2 gene. MRXSB has been described in six female patients with dysmorphy, developmental delay, intellectual disability, autism, hypotonia and seizures. The reported HNRNPH2 mutations were clustered in the small domain encoding nuclear localization signal; in particular, the p.

Salter-Harris type II fracture of the femoral bone in a 14-year-old boy - case report.

Background: Distal femoral physis fractures with displacement are rare injuries seen in adolescents related with high incidence of complication. They may lead to premature physeal closure consequently, to growth arrest and bone deformity.

Case Report: The case of a 14-year-old boy with Salter-Harris type II displaced fracture underwent surgery with open reduction has been described.

Suitability of imaging methods (X-ray, CT, MRI) in the diagnostics of Ewing's sarcoma in children - analysis of own material.

Background: Ewing sarcoma is a malignant, small round cell bone tumor, presenting predominantly in children and adolescents. Ewing sarcoma may develop in every bone; diaphyses of long bones, ribs and flat bones are the main locations. Local and systemic clinical symptoms are nonspecific - pain, swelling, fever or ill-being.