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Review Question - QID 921

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QID 921 (Type "921" in App Search)
A 5-year-old boy has sustained multiple fractures since birth. A pelvis radiograph taken 4 years ago is shown in Figure A. A current spine radiograph is shown in Figure B. Which of the following describes the mode of inheritance of this disease?
  • A
  • B

Autosomal dominant

46%

805/1747

Autosomal recessive

43%

756/1747

X-linked dominant

3%

58/1747

X-linked recessive

6%

111/1747

Trinucleotide repeat

0%

8/1747

  • A
  • B

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The radiographs demonstrate universal sclerotic bone and the classic rugger jersey spine of osteopetrosis. Also called marble bone disease, it is a group of disorders characterized by abnormal osteoclast function. Poor bone resorption results in dense, sclerotic bone susceptible to pathologic fracture. The infantile, also called "malignant," form of the disease is inherited in an autosomal recessive fashion (maps to chromosome 11q13). The adult, "benign," form of the disease is inherited in an autosomal dominant fashion.

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