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

Who first described Stoneman's syndrome?

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

Which genetic mutation is responsible for Stoneman's syndrome?

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

What is the main symptom of Stoneman's syndrome?

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

What is the prevalence of Stoneman's syndrome worldwide?

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

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

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

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

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

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

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

What is the cause of Stoneman's Syndrome?

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

What is the worldwide prevalence of Stoneman's Syndrome?

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

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

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

How is Stoneman's Syndrome diagnosed?

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

What is the worldwide prevalence of Stoneman's Syndrome?

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

Who first described Stoneman's Syndrome?

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

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

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

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