The Use of a Computerised Database for the Diagnosis of a Rare Neurological Syndrome
1987; Thieme Medical Publishers (Germany); Volume: 18; Issue: 04 Linguagem: Inglês
10.1055/s-2008-1052487
ISSN1439-1899
AutoresKiyotaka Tomiwa, M Baraitser, E. Brett, James M. Wilson,
Tópico(s)Genetics and Neurodevelopmental Disorders
ResumoA database which runs on an office microcomputer is being developed for the diagnosis of genetically determined neurological disorders. At present about 1100 conditions with their clinical features and 3000 references are stored in the database. We discuss a family with 3 sibs affected by a unique neurological disorder and show how the database is used. The 3 sibs, 4, 5 and 10 years old, show the same clinical course characterized by congenital cataracts, microcephaly, hypotonia, mental retardation, pyramidal signs and choreoathetoid movements starting in early childhood. The parents are first cousins of Bangladeshi origin. This condition does not appear in published report and is not listed in the database. It can therefore be concluded that the sibs have a unique autosomal recessive disorder.
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