H. Leonard et al., SKELETAL ABNORMALITIES IN RETT-SYNDROME - INCREASING EVIDENCE FOR DYSMORPHOGENETIC DEFECTS, American journal of medical genetics, 58(3), 1995, pp. 282-285
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.