Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family

We report an inbred family where 3 siblings had short stature, brachydactyl y, limitation of joint movements, microspherophakia, luxated lenses, glauco ma, and heart malformations. Parents of the affected siblings were relative ly short, but did not have any of the other features present in their sibli ngs. Those clinical features are consistent with the Weill-Marchesani syndr ome (MIM 277600). Both autosomal-recessive and autosomal-dominant pedigrees have been reported, with a possible linkage to chromosome 15q21.1 in the l atter. Linkage analysis at 15q21.1 in this Lebanese family allowed us to ex clude the role of this region in the etiology of the syndrome. Speculations regarding the pathogenesis of the disorder are discussed.