Subvalvular pulmonary stenosis, demyelination and myelodysplasia with monosomy 7.

Abstract excerpt

We report a 23-year-old male with subvalvular pulmonary stenosis (PS) presenting with concurrent acute demyelinating neuropathy and myelodysplasia with monosomy 7. There was no stigmata of Noonan syndrome or neurofibromatosis, nor any family history of cardiac or hematologic disorders. There are 40 reported pediatric cases of Noonan syndrome with subvalvular PS that developed leukemia, over two-thirds with...

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