[Fragile X-syndrome and mental retardation].
Two cases of fragile X-syndrome are presented. Both boys had a family history of learning disability. This syndrome is the most common cause of inherited mental retardation. There are few dysmorphic features in childhood, but in puberty 80% of persons with this syndrome develop macro-orchidism, as presented in our second case. Some of the cases may have large ears, with no folding pinnea (simple pinnae). They may also have long faces, and a prominent forehead and chin. A characteristic of the condition is behavioural dysfunction, including hyperactivity and autism. The author discusses difficulties diagnosing the condition, both clinically and by specialized chromosome analysis.
Eskeland
P
P
Spesialskole for barn og ungdom med laerevansker, Torshov skole, Oslo.
D000293:Adolescent; D002648:Child; D005600:Fragile X Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D007859:Learning Disabilities / Q000175:diagnosis / Q000235:genetics; D008297:Male
Fragilt x-syndrom og mental retardasjon.