Conductive deafness, symphalangism, and facial abnormalities: the WL syndrome in a Japanese family.
We report on a family in which four relatives were affected with an autosomal dominant syndrome of unusual facial appearance, nasal abnormality, conductive deafness, pectus carinatum, and symphalangism. This appears to be only the second report of the WL symphalangism syndrome of Herrmann and the first studied in a Japanese family.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D005145:Face / Q000002:abnormalities*; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D034381:Hearing Loss / Q000235:genetics*; D006314:Hearing Loss, Conductive / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome