SKELETAL ABNORMALITIES IN RETT-SYNDROME - INCREASING EVIDENCE FOR DYSMORPHOGENETIC DEFECTS

The presence of metatarsal and metacarpal abnormalities in some indivi duals has raised the possibility that Rett syndrome is, in fact, a mul tiple congenital abnormalities/mental retardation (MCA/MR) syndrome. W e have conducted radiological examination of 17 cases of Rett syndrome in Western Australia, Short fourth and/or fifth metatarsals were iden tified in 65% of cases and short fourth and/or fifth metacarpals in 57 %, Metatarsal (P = 0.045) and metacarpal (P = 0.006) shortness were si gnificantly more common in girls 14 years or older. Negative ulnar var iance (found in 79% of cases) appeared to be independent of age. Reduc ed bone density in the hands was found in 86% of cases. A nationwide s tudy using the Australian Rett Syndrome Database is planned to follow up these findings and compare them with findings from a control group. The confirmation of these abnormalities in a high proportion of cases may provide morphologic markers to assist in the diagnosis of Rett sy ndrome and perhaps provide a farther avenue of research into the patho genesis of this disorder. (C) 1995 Wiley-Liss, Inc.