Palmoplantar hyperkeratosis with short stature, facial dysmorphism, and hypodontia--a new syndrome?: case report.
In this study, a possible new syndrome affecting 18 members of a family spanning 4 generations is described. The main features include palmoplantar hyperkeratosis, proportionate short stature, facial dysmorphism, clinodactyly, epilepsy, deafness, and hypodontia. This syndrome is inherited in an autosomal dominant manner with a high degree of penetrance but variable expressivity. This syndrome differs markedly from the autosomal recessive types of palmoplantar hyperkeratosis such as Papillon-Lefèvre syndrome which shows premature loss of both dentitions. It is also distinct from other previously described cases of autosomal dominant forms of palmoplantar hyperkeratosis such as the Unna-Thost syndrome in that it presents short stature, facial dysmorphism, and hypodontia. These features which previously have not been associated with palmoplantar hyperkeratosis suggest that this may be a new syndrome.
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D000328:Adult; D000848:Anodontia / Q000150:complications*; D001827:Body Height; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007645:Keratoderma, Palmoplantar / Q000235:genetics*; D008297:Male; D009264:Nails, Malformed / Q000235:genetics; D010375:Pedigree; D013577:Syndrome