| Proteus syndrome: an expanded phenotype. | |
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MedLine Citation:
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PMID: 3605210 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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R D Clark; D Donnai; J Rogers; J Cooper; M Baraitser |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 27 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1987 May |
Date Detail:
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Created Date: 1987-07-24 Completed Date: 1987-07-24 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 99-117 Citation Subset: IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Child Child, Preschool Exostoses / genetics Extremities / pathology Female Growth Disorders / diagnosis*, genetics Hamartoma Syndrome, Multiple / diagnosis*, genetics Hemangioma, Cavernous / genetics Humans Lipoma / genetics Male Neoplasms, Multiple Primary / diagnosis* Nevus / genetics Phenotype Scoliosis / genetics |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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