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An autosomal dominant syndrome with 'acromegaloid' features and thickened oral mucosa.

Authors
Journal
Journal of Medical Genetics
0022-2593
Publisher
BMJ
Publication Date
Keywords
  • Research Article

Abstract

A previously undescribed autosomal dominant syndrome has been observed in a large kindred with affected relatives spanning at least five generations. The phenotype is highly variable and appears to show complete penetrance. Affected persons have a progressively coarse, acromegaloid-like facial appearance and thickening of the lips and intraoral mucosa. The differences are discussed between this syndrome and three rather similar syndromes, pachydermoperiostosis, the Ascher syndrome, and multiple neuroma syndrome. Images

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