Article
A rare presentation and diagnosis of juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia overlap syndrome.
Clinical imaging - 1 Jan 2000
Lin Henry C, Fiorino Kristin N, Blick Carly, Anupindi Sudha A
Abstract excerpt
We present a unique case of juvenile polyposis and hereditary hemorrhagic telangiectasia overlap syndrome. The patient was found to have polyps on colonoscopy leading to genetic testing revealing an SMAD4 mutation. In children with SMAD4 mutation and juvenile polyposis, this overlap syndrome needs to be considered in the differential diagnosis and prompt the clinician to look for telangiectasias on examination...
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