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  • Title: [Börjeson-Forssman-Lehmann syndrome: report of a case].
    Author: Wojciechowski M, Dutra-Filho CS, Da Costa AC, Laser LF, Giugliani R, Rotta NT, Ohlweiler L.
    Journal: Arq Neuropsiquiatr; 1986 Sep; 44(3):289-92. PubMed ID: 3593038.
    Abstract:
    We present a case of Börjeson-Forssman-Lehmann syndrome characterized by the presence of hypogonadism, grotesque facies, microcephaly, large ears, obesity and convulsions. In addition to these findings, which were detected also in the other patients described in the literature, the present patient showed hyperglycemia and aminoaciduria. In our opinion, the presence of these alterations and the poor evolution of the patient, with death occurring during the first year of life, may contribute to the amplification of the phenotypic spectrum of the Börjeson-Forssman-Lehmann syndrome.
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