Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: a new autosomal dominant syndrome.
We report on an autosomal dominant syndrome consisting of unique corneal epithelial changes, diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, premature birth, and dental problems. This condition has been present in seven persons in three generations of one family. Corneal biopsies demonstrate mild dysplastic changes in the epithelium. Skin biopsies show hyperkeratosis and acanthosis. In both eye and skin specimens, results of stains for polysaccharides, amyloid, and tyrosine were unremarkable. Roentgenograms of the hands show short distal phalanges, short 4th metacarpals, and constriction of the heads of some of the metacarpals. In three of four affected relatives, a variable medullary narrowness is seen. In mode of inheritance, clinical appearance, and/or associated defects. This syndrome appears to differ from previously reported conditions that include palmoplantar hyperkeratosis and/or corneal changes.
D000328:Adult; D001827:Body Height; D002648:Child; D003316:Corneal Diseases / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009264:Nails, Malformed / Q000235:genetics; D010331:Paternal Age; D010375:Pedigree; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*; D014071:Tooth Abnormalities / Q000235:genetics