| Multiple familial lipomatosis with polyneuropathy, an inherited dominant condition. | |
| | |
MedLine Citation:
|
PMID: 9037345 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
A 22-year-old man had polyneuropathy, facial dysmorphia, atopia and multiple lipomatosis. His mother had neuropathy but not lipomatosis as two of her first cousins. The proband's grandmother had multiple lipomatosis as her own mother and a sister of her mother, but they didn't have neuropathy. This family is an example of a dominant syndrome the principle features of which are polyneuropathy. Variable expression could account for the phenotypic differences, combined with multiple lipomatosis. |
| | |
Authors:
|
C Stoll; Y Alembik; M Truttmann |
Related Documents
:
|
7199015 - Multiple endocrine neoplasia type 2b in twins. 6713925 - Computed tomography of mural thrombosis in the hypereosinophilic syndrome. 17097365 - Multiple cutaneous neuromas and macular amyloidosis associated with medullary thyroid c... 18324905 - Rare ta repeats in promoter tata box of the udp glucuronosyltranferase (ugt1a1) gene in... 19228275 - Down syndrome: a cardiovascular perspective. 21537705 - Metabolic syndrome and its components in hiv-infected individuals. |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: Annales de génétique Volume: 39 ISSN: 0003-3995 ISO Abbreviation: Ann. Genet. Publication Date: 1996 |
Date Detail:
|
Created Date: 1997-04-01 Completed Date: 1997-04-01 Revised Date: 2004-11-17 |
Medline Journal Info:
|
Nlm Unique ID: 0370562 Medline TA: Ann Genet Country: FRANCE |
Other Details:
|
Languages: eng Pagination: 193-6 Citation Subset: IM |
Affiliation:
|
Institut de Puériculture, Strasbourg, France. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adult Genes, Dominant* Humans Lipomatosis, Multiple Symmetrical / genetics* Male Pedigree Peripheral Nervous System Diseases / genetics* Phenotype |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Psychosocial factors and health status in women with rheumatoid arthritis: predictive models.
Next Document: Another patient with a deletion 14q11.2q13.