Skeletal abnormalities in Rett syndrome: increasing evidence for dysmorphogenetic defects

Am J Med Genet. 1995 Sep 11;58(3):282-5. doi: 10.1002/ajmg.1320580316.


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.

MeSH terms

  • Abnormalities, Multiple*
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Foot Deformities, Congenital / diagnostic imaging*
  • Hand Deformities, Congenital / diagnostic imaging*
  • Humans
  • Male
  • Radiography
  • Rett Syndrome*