Guided Growth in Skeletal Deformity Associated with DNA-Confirmed Ollier Disease

Abstract

Abstract: Ollier disease (Spranger type I) is a rare, non-hereditary skeletal dysplasia characterized by asymmetrically distributed enchondromas. We report a case of an eight-year-old female presenting with left lower limb shortening and varus deformity. Radiographic evaluation revealed multiple osteolytic lesions typical of the disease. For the first time in early-stage diagnosis, targeted next-generation sequencing (NGS) was applied, identifying a heterozygous pathogenic IDH1 variant (c.394C>T; p.Arg132Cys), thus enabling prompt molecular confirmation. Surgical management combined guided growth via proximal tibial epiphysiodesis with intraoperative bone biopsy in a single session, reducing anesthetic exposure and hospitalization time. The early application of molecular genetic testing in this case contributed to improved diagnostic accuracy and more effective treatment planning, ultimately supporting better patient outcomes in skeletal dysplasia.