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  • Large birth weight
  • You notice that your child has what appears to be a hole in the iris or an unusual-shaped pupil.
  • Infection
  • Difficulty breathing
  • Kidney disease or dialysis (you may not be able to receive contrast)
  • Bronchoscopy -- camera down the throat to see burns in the airways and lungs
  • Familial PJS is due to a mutation in a gene called STK11. The genetic defect is passed down (inherited) through families as an autosomal dominant trait. That means if one of your parents has this type of PJS, you have a 50:50 chance of inheriting the bad gene and having the disease.
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