OI due to COL1A1/2 defects; **Sillence I–IV** (classic) with expanded types V–VII; severity ranges from mild to perinatal lethal. Clinical: **blue sclerae**, dentinogenesis imperfecta, ligamentous laxity, short stature, recurrent fractures, hearing loss. Medical therapy: **bisphosphonates** (IV pamidronate/zoledronate) improve BMD and reduce fracture rate. Surgical: **intramedullary rodding** (telescopic Fassier–Duval) to correct deformity and reduce fractures. Multidisciplinary care: dental, audiology, physiotherapy; careful handling to avoid iatrogenic fractures.
Which type of Osteogenesis Imperfecta (OI) is characterized by blue sclerae and a mild fracture tendency, with a normal life expectancy?
What is the primary genetic mutation responsible for the majority of Osteogenesis Imperfecta cases?
In which type of Osteogenesis Imperfecta is the patient likely to have a lethal outcome at birth due to severe skeletal deformities?
What is a common dental manifestation observed in patients with Osteogenesis Imperfecta Type IB?
Which of the following treatments is commonly used to improve bone mineral density in Osteogenesis Imperfecta?
What is the typical scleral color observed in patients with Osteogenesis Imperfecta Type III?
In Osteogenesis Imperfecta, what is the primary cause of bone fragility?
Which of the following features is NOT typically associated with Osteogenesis Imperfecta?
What type of surgical intervention is often used to correct deformities and reduce fractures in patients with Osteogenesis Imperfecta?
Which feature distinguishes Osteogenesis Imperfecta Type IV from Type III?
