| Literature DB >> 9429147 |
J L Tolmie1, R Day, B Fredericks, P Galea, A W Moffett.
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.Entities:
Mesh:
Year: 1997 PMID: 9429147 PMCID: PMC1051156 DOI: 10.1136/jmg.34.12.1018
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318