Proteus syndrome: An expanded phenotype
- 1 May 1987
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 27 (1) , 99-117
- https://doi.org/10.1002/ajmg.1320270111
Abstract
We report on 11 new cases of Proteus syndrome to illustrate the broad range of the phenotype in this hamartomatous dysplasia. The cardinal manifestations of this sporadic disorder are hemihypertrophy, macrodactyly, exostoses, scoliosis, cavernous hemangiomas, lipomas, linear sebaceous nevi, and deeply rugated soles of the feet. Intelligence is usually normal. The differential diagnosis includes Klippel‐Trenaunay‐Weber and partial lipodystrophy syndromes.Keywords
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