Podcast
Questions and Answers
What is the primary cause of the facial and cranial deformities seen in autosomal recessive infantile osteopetrosis?
What is the primary cause of the facial and cranial deformities seen in autosomal recessive infantile osteopetrosis?
Which protein defect is primarily responsible for the increased susceptibility to infection in autosomal recessive infantile osteopetrosis?
Which protein defect is primarily responsible for the increased susceptibility to infection in autosomal recessive infantile osteopetrosis?
What is the most common radiographic feature of autosomal recessive infantile osteopetrosis?
What is the most common radiographic feature of autosomal recessive infantile osteopetrosis?
Which of the following is a common clinical feature of autosomal recessive infantile osteopetrosis?
Which of the following is a common clinical feature of autosomal recessive infantile osteopetrosis?
Signup and view all the answers
What is the primary genetic abnormality underlying autosomal recessive infantile osteopetrosis?
What is the primary genetic abnormality underlying autosomal recessive infantile osteopetrosis?
Signup and view all the answers
What is the most common complication of tooth extraction in autosomal recessive infantile osteopetrosis?
What is the most common complication of tooth extraction in autosomal recessive infantile osteopetrosis?
Signup and view all the answers
What characterizes osteopetrosis?
What characterizes osteopetrosis?
Signup and view all the answers
Which term best describes the failure observed in osteopetrosis?
Which term best describes the failure observed in osteopetrosis?
Signup and view all the answers
What is a common clinical feature of autosomal recessive infantile osteopetrosis?
What is a common clinical feature of autosomal recessive infantile osteopetrosis?
Signup and view all the answers
Which type of osteopetrosis is usually diagnosed at birth or in early infancy?
Which type of osteopetrosis is usually diagnosed at birth or in early infancy?
Signup and view all the answers
What is the estimated frequency of osteopetrosis in the general population?
What is the estimated frequency of osteopetrosis in the general population?
Signup and view all the answers
Which of the following is NOT a typical finding in autosomal recessive infantile osteopetrosis?
Which of the following is NOT a typical finding in autosomal recessive infantile osteopetrosis?
Signup and view all the answers
What is a common radiographic feature of osteopetrosis in the upper extremity?
What is a common radiographic feature of osteopetrosis in the upper extremity?
Signup and view all the answers
Which type of osteopetrosis is characterized by mild to moderate anemia and extramedullary hematopoiesis but rarely bone marrow failure?
Which type of osteopetrosis is characterized by mild to moderate anemia and extramedullary hematopoiesis but rarely bone marrow failure?
Signup and view all the answers
In osteopetrosis, why are tooth roots often difficult to visualize on dental radiographs?
In osteopetrosis, why are tooth roots often difficult to visualize on dental radiographs?
Signup and view all the answers
What is a characteristic feature of autosomal recessive infantile ('malignant') osteopetrosis?
What is a characteristic feature of autosomal recessive infantile ('malignant') osteopetrosis?
Signup and view all the answers
Which bones exhibit increased density in osteopetrosis?
Which bones exhibit increased density in osteopetrosis?
Signup and view all the answers
What clinical presentation is often seen in autosomal recessive intermediate osteopetrosis by the end of the first decade?
What clinical presentation is often seen in autosomal recessive intermediate osteopetrosis by the end of the first decade?
Signup and view all the answers
