Literature DB >> 9037345

Multiple familial lipomatosis with polyneuropathy, an inherited dominant condition.

C Stoll1, Y Alembik, M Truttmann.   

Abstract

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.

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Year:  1996        PMID: 9037345

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  2 in total

1.  Mitral valve annular caseous calcification causing severe mitral valve stenosis and familial multiple lipomatosis: Case report and literature review.

Authors:  Faisal O Alatawi
Journal:  J Taibah Univ Med Sci       Date:  2016-11-15

2.  Familial multiple lipomas coexisting with celiac disease: a case report.

Authors:  Ilyas Sayar; Levent Demirtas; Mehmet Gurbuzel; Arda Isik; Kemal Peker; Baris Gulhan
Journal:  J Med Case Rep       Date:  2014-09-16
  2 in total

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