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Multiple familial lipomatosis with polyneuropathy, an inherited dominant condition.

Authors
  • Stoll, C
  • Alembik, Y
  • Truttmann, M
Type
Published Article
Journal
Annales de génétique
Publication Date
Jan 01, 1996
Volume
39
Issue
4
Pages
193–196
Identifiers
PMID: 9037345
Source
Medline
License
Unknown

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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