Weill-Marchesani syndrome (WMS) is a rare condition characterized by short 
stature, brachydactyly, joint stiffness, and characteristic eye abnormalities 
including microspherophakia, ectopia of lens, severe myopia, and glaucoma. Both 
autosomal recessive (AR) and autosomal dominant (AD) modes of inheritance have 
been described for WMS. A locus for AR WMS has recently been mapped to 
chromosome 19p13.3-p13.2 while mutation within the fibrillin-1 gene (15q21.1) 
was found in one AD WMS family. In order to answer the question of whether or 
not genetic heterogeneity could be related to a clinical heterogeneity, we 
reviewed 128 WMS patients from the literature (including 57 AR, 50 AD, and 21 
sporadic cases), with a particular attention to clinical features. Statistical 
analyses using Fischer exact test were used to compare the proportions of 12 
clinical parameters between AR and AD patients. There was no significant 
difference between both groups for myopia, glaucoma, cataract, short stature, 
brachydactyly, thick skin, muscular build, and mental retardation. Significant 
results were found for microspherophakia (94% in AR, 74% in AD, Fischer 0.007), 
ectopia lentis (64% in AR, 84% in AD, Fischer 0.016), joint limitations (49% in 
AR, 77% in AD, Fischer 0.010), and cardiac anomalies (39% in AR, 13% in AD, 
Fischer 0.004). Nevertheless, we failed to distinguish AR from AD inheritance in 
individual cases. These results support the clinical homogeneity but the genetic 
heterogeneity of WMS.