Question
What are the main characteristics of pediatric osteosclerosis, also known as osteoclast disease or marble bone disease?
Answer
Pediatric osteosclerosis, also referred to as osteoclast disease or marble bone disease, exhibits characteristics such as systemic bone sclerosis, abnormal bone formation, progressive anemia, liver and spleen enlargement, fracture susceptibility, and a tendency to run in families. Most patients develop the condition from infancy, presenting with pale complexion, square head shape, full forehead, wide eye spacing, blindness, and fractures. Despite having large bones, the affected children are extremely fragile and prone to fractures. Fractures can heal normally, but they often lead to skeletal deformities.