Osteogenesis Imperfecta in Children

1. OSTEOGENESIS IMPERFECTA IN CHILDREN www.trishlaortho.com

2. OVERVIEW “ Your child has just started learning to walk, and you notice frequent fractures after minor falls. A doctor diagnoses weak bones, leaving you wondering how such a condition can affect such young children. Osteogenesis Imperfecta in children, commonly called brittle bone disease, is rare, affecting roughly 1 in every 100,000 families. But it’s not due to bad luck; it’s a genetic condition. Let’s understand this condition better with insights from pediatric orthopedic specialists.

3. WHAT IS OSTEOGENESIS IMPERFECTA IN CHILDREN? Osteogenesis Imperfecta (OI) is a rare genetic disorder that causes bones to break easily, even with minimal or no trauma. Present from birth, its severity ranges from mild to life-threatening. The primary cause is defective collagen formation—particularly Type 1 Collagen, a crucial protein that makes up 90% of bone’s organic structure and is also present in tendons, skin, ligaments, and other tissues.

4. CAUSES The root cause is a genetic mutation affecting the production or quality of Type 1 Collagen. Insufficient or poor-quality collagen results in fragile bones. The severity of OI depends on the type of gene involved.

5. Symptoms vary based on the type of OI but may include: • Fragile bones that fracture easily, even with minor trauma • Bone deformities in arms and legs • Blue sclera (bluish tint in the whites of the eyes) • Short stature and curved spine • Brittle, discolored teeth (Dentinogenesis Imperfecta) • Hearing loss (especially during adolescence or adulthood) • Muscle weakness and hyperflexible joints SYMPTOMS OF OSTEOGENESIS IMPERFECTA

6. WHO IS AT RISK? Dominant inheritance: If one parent has OI, there’s a 50% chance of passing it to the child. Recessive inheritance: Both parents carry the defective gene, even if they show no symptoms. Genetic counseling is recommended in families with recurrent unexplained fractures or a history of OI.

7. TREATMENT There is no cure for OI, but treatments aim to prevent fractures, manage deformities, and improve quality of life: 1. Medications (Bisphosphonates): Improve bone density, reducing fracture risk. Calcium and Vitamin D supplements are recommended before treatment. 2. Braces and Orthosis: Lightweight polypropylene braces help support limbs and prevent fractures during activity. 3. Plaster Casts: Used to stabilize fractures but must be applied carefully to prevent deformity. 4. Physical Therapy and Exercise: Weight-bearing exercises strengthen bones and muscles; prolonged bed rest should be avoided as it can worsen bone weakness. 5. Surgery: Required to correct deformities or manage recurrent fractures. Specialized pediatric orthopedic surgeons useintramedullary rods to stabilize bones and prevent future fractures.

8. Osteogenesis Imperfecta in children may be rare, but its impact can be managed effectively with early diagnosis, proper orthopedic care, and family support. If your child shows signs of OI or you need a second opinion, consult Trishla Ortho today and take the first step toward a healthier, more confident future for your child. CONCLUSION

9. CONTACT INFORMATION PHONE 7379087121 (WhatsApp), 9415014994 WEBSITE www.trishlaortho.com ADDRESS Trishla Orthopedic Clinic & Rehab center, 182C / 350A, Tagore Town, Prayagraj (Allahabad) U.P-211002, India