This course provides an up-to-date and clinically focused overview of rare bone diseases, encompassing advances in classification, epidemiology, molecular diagnostics, imaging interpretation, and therapeutic innovation. Participants will explore key mechanisms such as genetic mutations, imprinting disorders, methylation defects, and mosaicism, and will gain practical guidance on phenotype-driven diagnosis and dysplasia-oriented radiographic assessment.

We will discuss emerging therapies ranging from pharmacologic treatments to gene and cell-based approaches and place particular emphasis on surgical management: current evidence, guidelines and recommendations on indications and timing of intervention, treatment strategies, technical considerations, and common pitfalls when operating on children with rare skeletal conditions. The programme also addresses rehabilitation, orthotic management, functional outcomes, psychosocial care, and the transition to adulthood.

The course offers valuable educational opportunities for residents and early-career clinicians seeking a structured foundation in this complex field, while also providing experienced surgeons with a focused and comprehensive update on rapidly evolving diagnostic and therapeutic approaches.

Course language: english (no translation)

Referents

President

051-6366186, 340-2643380

giovanni.trisolino@ior.it

Trisolino Giovanni, MD

MD

Pediatric Orthopedics and Traumatology