| Retinal changes and tumorigenesis in Ramon syndrome: follow-up of a Brazilian family. | |
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MedLine Citation:
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PMID: 9557893 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on the clinical evolution of the Brazilian family with Ramon syndrome described by de Pina-Neto et al. [1986, Am J Med Genet 25:441-443]. Three members (patients IV-2, IV-18, and IV-19) have developed pigmentary changes in the retina and paleness of the optic disk. Patient IV-18 also has developed giant hypertrophy of the labia minora that, when examined histopathologically, was found to be due to neoplastic fibroblast and epithelial proliferation caused by a fibromatous process similar to that reported in the gingivae of the patients with this syndrome. Audiologic function of patient IV-2 was normal, and no skin lesions were detected. The articular signs and symptoms show that the affected relatives developed rheumatoid arthritis, which is currently inactive in patient IV-18, whereas patient IV-2 did not develop these alterations. |
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Authors:
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J M de Pina-Neto; N V de Souza; M A Velludo; G B Perosa; M M de Freitas; J F Colafêmina |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 77 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1998 Apr |
Date Detail:
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Created Date: 1998-08-03 Completed Date: 1998-08-03 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: 43-6 Citation Subset: IM |
Affiliation:
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Department of Genetics, Faculty of Medicine of Ribeirão Preto, University of São Paulo, Brazil. jmdpneto@fmrp.usp.br |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Arthritis, Juvenile Rheumatoid / genetics Brazil Carcinoma, Squamous Cell / genetics, pathology Cherubism / genetics Epilepsy / genetics Female Fibroma / genetics*, pathology Follow-Up Studies Gingival Hypertrophy / genetics Growth Disorders / genetics Humans Hypertrichosis / genetics Male Mental Retardation / genetics Retinal Diseases / genetics*, pathology Syndrome Vulvar Neoplasms / genetics*, pathology |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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