We report on the natural history of a female with dominant omodysplasia, a rare 
osteochondrodysplasia with short stature, rhizomelia of the extremities (upper 
extremities more affected), and short first metacarpals. The proband had normal 
molecular analysis of the glypican 6 gene (GPC6), which was recently reported as 
a candidate for autosomal recessive omodysplasia. The findings in this patient 
were compared to other known and suspected cases of autosomal dominant 
omodysplasia. Mild rhizomelic shortening of the lower extremities has not been 
previously reported.