Palmoplantar hyperkeratosis with short stature, facial dysmorphism, and hypodontia--a new syndrome?: case report.

Abstract:

: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.

journal_name

Pediatr Dent

journal_title

Pediatric dentistry

authors

Seow WK

subject

Has Abstract

pub_date

1989-06-01 00:00:00

pages

145-50

issue

2

eissn

0164-1263

issn

1942-5473

journal_volume

11

pub_type

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