Skeletal abnormalities in Rett syndrome: increasing evidence for dysmorphogenetic defects.
The presence of metatarsal and metacarpal abnormalities in some individuals has raised the possibility that Rett syndrome is, in fact, a multiple congenital abnormalities/mental retardation (MCA/MR) syndrome. We have conducted radiological examination of 17 cases of Rett syndrome in Western Australia. Short fourth and/or fifth metatarsals were identified in 65% of cases and short fourth and/or fifth metacarpals in 57%. Metatarsal (P = 0.045) and metacarpal (P = 0.006) shortness were significantly more common in girls 14 years or older. Negative ulnar variance (found in 79% of cases) appeared to be independent of age. Reduced bone density in the hands was found in 86% of cases. A nationwide study 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 syndrome and perhaps provide a further avenue of research into the pathogenesis of this disorder.
Disability Services Commission, Perth, Western Australia.
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H
Leonard
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M
Thomson
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C
Bower
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S
Fyfe
J
J
Constantinou
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging*; D006801:Humans; D008297:Male; D011859:Radiography; D015518:Rett Syndrome