Tolmie J L, Day R, Fredericks B, Galea P, Moffett A W
Duncan Guthrie Institute of Medical Genetics, Yorkhill Hospitals NHS Trust, Glasgow, UK.
J Med Genet. 1997 Dec;34(12):1018-20. doi: 10.1136/jmg.34.12.1018.
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.
我们报告了一位母亲和她的儿子，他们在婴儿期均表现为肌张力减退和全面发育迟缓。随后，在这两名患者中，均诊断出轻度智力障碍并伴有颞叶蛛网膜囊肿。这种表型似乎可能是孟德尔遗传，而且一般来说，在患有家族性轻度智力障碍的人群中，宏观脑发育异常可能未得到充分诊断。
