RT Journal Article
SR Electronic
T1 An autosomal dominant syndrome with 'acromegaloid' features and thickened oral mucosa.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 119
OP 125
DO 10.1136/jmg.22.2.119
VO 22
IS 2
A1 Hughes, H E
A1 McAlpine, P J
A1 Cox, D W
A1 Philipps, S
YR 1985
UL http://jmg.bmj.com/content/22/2/119.abstract
AB 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.