Author:

Keywords:

Abnormalities, Multiple, Adult, Ataxia, Facies, Female, Genetic Diseases, Inborn, Humans, Hypogonadism, Mental Retardation, Middle Aged, Muscle Hypotonia, Retinal Degeneration, Syndrome, Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, mental retardation, ataxia, hypergonadotrophic hypogonadism, retinal dystrophy, CEREBELLAR-ATAXIA, HYPOGONADOTROPIC HYPOGONADISM, Intellectual Disability, 06 Biological Sciences, 11 Medical and Health Sciences, 3105 Genetics, 3202 Clinical sciences

Abstract:

We describe a familial mental retardation syndrome in a 30 year old, moderately mentally retarded female and her 59 year old maternal aunt. Both presented the distinct association of (1) a non-progressive neurological syndrome with ataxia and hypotonia, (2) similar craniofacial appearance with a narrow forehead, prominent supraorbital ridges and tendency to synophrys, deeply set eyes with short, upward slanting palpebral fissures, short philtrum, and large mouth, (3) hypergonadotrophic hypogonadism, and (4) retinal dystrophy with onset in early adulthood.