18 Questions
What is the primary cause of the facial and cranial deformities seen in autosomal recessive infantile osteopetrosis?
Narrow skull foramina and cranial nerve compression
Which protein defect is primarily responsible for the increased susceptibility to infection in autosomal recessive infantile osteopetrosis?
Granulocytopenia
What is the most common radiographic feature of autosomal recessive infantile osteopetrosis?
Loss of distinction between cortical and cancellous bone
Which of the following is a common clinical feature of autosomal recessive infantile osteopetrosis?
Hepatosplenomegaly
What is the primary genetic abnormality underlying autosomal recessive infantile osteopetrosis?
Recessive mutation in the CLCN7 gene
What is the most common complication of tooth extraction in autosomal recessive infantile osteopetrosis?
Osteomyelitis of the jaws
What characterizes osteopetrosis?
Markedly increased bone density
Which term best describes the failure observed in osteopetrosis?
Osteoclast function
What is a common clinical feature of autosomal recessive infantile osteopetrosis?
Cranial nerve compression
Which type of osteopetrosis is usually diagnosed at birth or in early infancy?
Autosomal recessive infantile type
What is the estimated frequency of osteopetrosis in the general population?
1 in 100,000 to 500,000 persons
Which of the following is NOT a typical finding in autosomal recessive infantile osteopetrosis?
Low bone density
What is a common radiographic feature of osteopetrosis in the upper extremity?
Poorly formed distal metaphyses of the ulna and radius
Which type of osteopetrosis is characterized by mild to moderate anemia and extramedullary hematopoiesis but rarely bone marrow failure?
Autosomal Recessive Intermediate Osteopetrosis
In osteopetrosis, why are tooth roots often difficult to visualize on dental radiographs?
As a result of excessive thickening and density of bone
What is a characteristic feature of autosomal recessive infantile ('malignant') osteopetrosis?
Failure of tooth eruption
Which bones exhibit increased density in osteopetrosis?
Ribs, humerus, and clavicles
What clinical presentation is often seen in autosomal recessive intermediate osteopetrosis by the end of the first decade?
Asymptomatic fractures
Learn about osteopetrosis, a rare hereditary skeletal disorder characterized by increased bone density. Understand the causes, symptoms, and impact on lifespan. Explore the condition that results from a failure of osteoclast function or differentiation.
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