Journal article

Diagnosis of Rett syndrome: can a radiograph help?

EJ Glasson, C Bower, MR Thomson, S Fyfe, S Leonard, E Rousham, J Christodoulou, C Ellaway, H Leonard

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY | CAMBRIDGE UNIV PRESS | Published : 1998

Abstract

Rett syndrome (RS), a neurodevelopmental disorder almost exclusively affecting girls, is associated with severe intellectual and motor disability. In the absence of biological markers, diagnosis is determined by a set of clinical criteria. In a previous study in Scotland, shortening of the fourth metatarsal was reported clinically in 20% of classical RS cases aged 5 years or older. The Australian Rett Syndrome Study database has facilitated a population-based radiological study of the hands and feet of girls with RS. Straight radiographs of hands and feet were available from 94 cases, representing 70.1% of the known RS population in Australia. Control radiographs were matched for age, sex, a..

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