🦴 Osteogenesis Imperfecta (OI)
OI is a genetic disorder causing fragile bones that break easily due to defective collagen.
🔍 Causes
Mutations in COL1A1 or COL1A2 genes 🧬
Defective type 1 collagen → weak bone structure 🦴❌
⚠️ Symptoms
Frequent bone fractures 💥🦴
Bone deformities and short stature 📏⬇️
Blue sclera (bluish eye whites) 👁️🔵
Hearing loss 🎧
Brittle teeth 🦷
🩺 Diagnosis
History of multiple fractures 🤕
X-rays showing fractures and deformities 📸
Genetic testing 🧬
🩹 Treatment
Bisphosphonates to strengthen bones 💊
Physical therapy and safe exercises 🤸♂️🧘♀️
Surgery for fractures or deformities 🔧
Hearing aids or dental care as needed 👂🦷