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Protein Misfolding Cyclic Amplification of Prions
Published on: November 7, 2012
Proteus syndrome: a case report
S Pangkanon1, W Limpongsanurak, V Sangtawesin
1Division of Medical Genetics, Queen Sirikit National Institute of Child Health, Bangkok, Thailand.
Abstract:
Proteus syndrome is a rare genetic disorder, characterized by partial gigantism of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, multiple hamartomatous subcutaneous tumors, hyperostoses, and long bone overgrowth. A one day old Thai male infant is reported with macrosomia, hemihypertrophy of the left side of the face and left leg, large feet, macrodactyly of toes, plantar hyperplasia, large subcutaneous mass with a violet-red surface over the left side of the chest wall and a large port-wine stain involving the lateral aspect of the right chest wall. The clinical findings, diagnostic criteria, differential diagnosis, and management of the Proteus syndrome are reviewed.
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