A 10-year-old girl presents with frequent fractures with minimal trauma. She also has blue sclera and hearing loss. What might be the diagnosis and what are the next steps?
The girl's history of frequent fractures, blue sclera, and hearing loss suggest a condition called osteogenesis imperfecta, a group of genetic disorders that primarily affect the bones, causing them to be fragile and break easily. It is typically caused by mutations in the COL1A1 or COL1A2 genes. The next steps would include genetic testing to confirm the diagnosis, and then a tailored management plan that may include physiotherapy, occupational therapy, and possibly bisphosphonate therapy to increase bone density. Regular audiology assessments would also be needed.