Abstract

Type E brachydactyly is a digital malformation which characteristically causes an asymmetrical shortening of one or more metacarpals or metatarsals or both. Although commonly seen as part of a syndrome, it can be inherited as an autosomal dominant characteristic, the gene acting with variable expressivity, but complete penetrance. As an Albright hereditary osteodystrophy (AHO)-like syndrome including brachydactyly type E and mental retardation may be caused by (micro) deletions at chromosome 2q37, this region together with the AHO locus at chromosome 20q13 were considered as candidate loci for brachydactyly type E. In this paper we described a family with isolated autosomal dominant type E brachydactyly in whom molecular analysis excludes linkage to these regions, providing support for further genetic heterogeneity of this trait.