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  • Title: The Börjeson-Forssman-Lehmann syndrome.
    Author: Robinson LK, Jones KL, Culler F, Nyhan WL, Sakati N, Jones KL.
    Journal: Am J Med Genet; 1983 Jul; 15(3):457-68. PubMed ID: 6683929.
    Abstract:
    Recently we evaluated a Saudi Arabian family in which a severely affected male and a more mildly affected set of monozygotic (MZ) female twins had manifestations of the Börjeson-Forssman-Lehmann syndrome including short stature, hypotonia, mental deficiency, coarse facial appearance with a prominent brow-ridge, and large ears. We present clinical, radiographic, electroencephalographic, and endocrinologic data to further delineate this condition and set forth the manifestations of two normal, presumably heterozygous, females.
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