Osteopetrosis (Albers-Schönberg Disease) Overview

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Questions and Answers

What is the primary cause of the facial and cranial deformities seen in autosomal recessive infantile osteopetrosis?

  • Excessive bone density
  • Increased osteoclast activity
  • Narrow skull foramina and cranial nerve compression (correct)
  • Autosomal recessive inheritance

Which protein defect is primarily responsible for the increased susceptibility to infection in autosomal recessive infantile osteopetrosis?

  • Defects in osteoblast-specific proteins
  • Defects in osteoclast-specific proteins
  • Increased skeletal density
  • Granulocytopenia (correct)

What is the most common radiographic feature of autosomal recessive infantile osteopetrosis?

  • Osteomyelitis of the jaws
  • Increased skeletal density with defects in metaphyseal remodeling
  • Pathologic fractures
  • Loss of distinction between cortical and cancellous bone (correct)

Which of the following is a common clinical feature of autosomal recessive infantile osteopetrosis?

<p>Hepatosplenomegaly (B)</p> Signup and view all the answers

What is the primary genetic abnormality underlying autosomal recessive infantile osteopetrosis?

<p>Recessive mutation in the CLCN7 gene (D)</p> Signup and view all the answers

What is the most common complication of tooth extraction in autosomal recessive infantile osteopetrosis?

<p>Osteomyelitis of the jaws (B)</p> Signup and view all the answers

What characterizes osteopetrosis?

<p>Markedly increased bone density (D)</p> Signup and view all the answers

Which term best describes the failure observed in osteopetrosis?

<p>Osteoclast function (A)</p> Signup and view all the answers

What is a common clinical feature of autosomal recessive infantile osteopetrosis?

<p>Cranial nerve compression (A)</p> Signup and view all the answers

Which type of osteopetrosis is usually diagnosed at birth or in early infancy?

<p>Autosomal recessive infantile type (A)</p> Signup and view all the answers

What is the estimated frequency of osteopetrosis in the general population?

<p>1 in 100,000 to 500,000 persons (D)</p> Signup and view all the answers

Which of the following is NOT a typical finding in autosomal recessive infantile osteopetrosis?

<p>Low bone density (A)</p> Signup and view all the answers

What is a common radiographic feature of osteopetrosis in the upper extremity?

<p>Poorly formed distal metaphyses of the ulna and radius (C)</p> 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?

<p>Autosomal Recessive Intermediate Osteopetrosis (D)</p> Signup and view all the answers

In osteopetrosis, why are tooth roots often difficult to visualize on dental radiographs?

<p>As a result of excessive thickening and density of bone (D)</p> Signup and view all the answers

What is a characteristic feature of autosomal recessive infantile ('malignant') osteopetrosis?

<p>Failure of tooth eruption (A)</p> Signup and view all the answers

Which bones exhibit increased density in osteopetrosis?

<p>Ribs, humerus, and clavicles (D)</p> Signup and view all the answers

What clinical presentation is often seen in autosomal recessive intermediate osteopetrosis by the end of the first decade?

<p>Asymptomatic fractures (A)</p> Signup and view all the answers

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