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Dominantly inherited cerebral dysplasia: arachnoid cyst associated with mild mental handicap in a mother and her son.

Authors
Journal
Journal of Medical Genetics
0022-2593
Publisher
BMJ
Publication Date
Keywords
  • Research Article
Disciplines
  • Medicine

Abstract

We report a mother and son who each presented in infancy with hypotonia and global developmental delay. Subsequently, in both subjects, mild mental handicap was diagnosed in association with temporal lobe arachnoid cysts. Mendelian inheritance of this phenotype seems likely and macroscopic cerebral dysplasia in general may be underdiagnosed in people with familial, mild mental handicap. Images

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