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  • Title: [Fragile X-syndrome and mental retardation].
    Author: Eskeland P.
    Journal: Tidsskr Nor Laegeforen; 1992 Mar 20; 112(8):1007-8. PubMed ID: 1553720.
    Abstract:
    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.
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