BACKGROUND: Weill-Marchesani syndrome is a rare systemic connective tissue 
disorder consisting of brachymorphy, brachydactyly, ectopia lentis, spherophakia 
and glaucoma.
METHODS: We report 6 patients with Weill-Marchesani syndrome (with or without 
ocular involvement) in three generations, identified by screening 26 members of 
two families. This is the largest family in the literature showing an autosomal 
dominant pattern of inheritance.
RESULTS: Presenile vitreous liquefaction was present in all the younger cases. 
Weill-Marchesani syndrome was full-blown in two cases in the third generation, 
in which asymmetrical axial length and glaucomatous damage were present. To our 
knowledge this is the first report regarding asymmetrical axial length and 
glaucomatous damage, and presenile vitreous liquefaction in Weill-Marchesani 
syndrome with or without ocular involvement.
CONCLUSIONS: The longer axial length might be the precursor of impending severe 
glaucomatous damage. Presenile vitreous liquefaction in subtle young cases 
should alert the physician to the diagnosis of Weill-Marchesani syndrome on 
screening of the family members.