EVIDENCE FOR GENETIC ANTICIPATION IN THE OCULODENTODIGITAL SYNDROME

Oculodentodigital syndrome (O.D.) is an autosomal dominant disorder co mprising facial anomalies, syndactyly, microcorneae, dental enamel hyp oplasia, and leukodystrophy. We describe a four generation family with O.D. in which anomalies such as syndactyly appear congenitally, where as neurological (i.e., leukodystrophic) signs and symptoms tend to be expressed in a more severe form and/or at an earlier age of onset in s uccessive generations of the kindred. This pattern of phenotypic expre ssion is consistent with the phenomenon of genetic anticipation, and w e suggest that O.D. may be a trinucleotide repeat disorder. (C) 1997 W iley-Liss, Inc.