Stoneman's Syndrome
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Questions and Answers

Which type of genetic mutation causes Stoneman's syndrome?

  • Frameshift mutation
  • Heterozygous missense mutation (correct)
  • Nonsense mutation
  • Homozygous missense mutation

    • What is the main effect of Stoneman's syndrome on the joints?

  • Progressive loss of mobility (correct)
  • Strengthening of the joints
  • Increased flexibility
  • No effect on the joints

    • Which body parts are commonly affected by malformation in Stoneman's syndrome?

  • Knees and elbows
  • Eyes and ears
  • Great toes and thumbs (correct)
  • Shoulders and hips

    • What is the prevalence of Stoneman's syndrome worldwide?

    <p>1 case in 2 million individuals</p> Signup and view all the answers

    Who first described Stoneman's syndrome?

    <p>Guy Patin</p> Signup and view all the answers

    Which genetic mutation is responsible for Stoneman's syndrome?

    <p>Heterozygous missense mutation in the ACVR1 gene</p> Signup and view all the answers

    What is the main symptom of Stoneman's syndrome?

    <p>Progressive loss of mobility in the joints</p> Signup and view all the answers

    What is the prevalence of Stoneman's syndrome worldwide?

    <p>1 case in 2 million individuals</p> Signup and view all the answers

    Which body parts are commonly affected by malformation in Stoneman's syndrome?

    <p>Fingers and toes</p> Signup and view all the answers

    What is the most disabling form of heterotopic ossification in humans?

    <p>Stoneman's syndrome</p> Signup and view all the answers

    Which characteristic is commonly seen in individuals with Stoneman's Syndrome?

    <p>Malformation of big toe</p> Signup and view all the answers

    What is the cause of Stoneman's Syndrome?

    <p>Heterozygous missense mutation in the ACVR1 gene</p> Signup and view all the answers

    What is the worldwide prevalence of Stoneman's Syndrome?

    <p>1 case in 2 million individuals</p> Signup and view all the answers

    What is the main effect of Stoneman's Syndrome on the joints?

    <p>Progressive loss of mobility</p> Signup and view all the answers

    How is Stoneman's Syndrome diagnosed?

    <p>Based on clinical finding of tumor-like swellings</p> Signup and view all the answers

    Which of the following is a characteristic feature of Stoneman's Syndrome?

    <p>Progressive loss of mobility in the joints</p> Signup and view all the answers

    What is the worldwide prevalence of Stoneman's Syndrome?

    <p>1 case in 2 million individuals</p> Signup and view all the answers

    Which of the following is true about the racial and ethnic predispositions of Stoneman's Syndrome?

    <p>It doesn't have any racial or ethnic predispositions</p> Signup and view all the answers

    Who first described Stoneman's Syndrome?

    <p>Guy Patin</p> Signup and view all the answers

    What is the main effect of Stoneman's Syndrome on the connective tissue?

    <p>Progressive heterotopic ossification</p> Signup and view all the answers

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