Osteogenesis Imperfecta — Sillence Types
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, au...
Practised by MCQ
10Which type of Osteogenesis Imperfecta (OI) is characterized by blue sclerae and a mild fracture tendency, with...
mcqWhat is the primary genetic mutation responsible for the majority of Osteogenesis Imperfecta cases?
mcqIn which type of Osteogenesis Imperfecta is the patient likely to have a lethal outcome at birth due to severe...
mcqWhat is a common dental manifestation observed in patients with Osteogenesis Imperfecta Type IB?
mcqWhich of the following treatments is commonly used to improve bone mineral density in Osteogenesis Imperfecta?
mcqWhat is the typical scleral color observed in patients with Osteogenesis Imperfecta Type III?
mcqIn Osteogenesis Imperfecta, what is the primary cause of bone fragility?
mcqWhich of the following features is NOT typically associated with Osteogenesis Imperfecta?
mcqWhat type of surgical intervention is often used to correct deformities and reduce fractures in patients with...
mcqWhich feature distinguishes Osteogenesis Imperfecta Type IV from Type III?