[Börjeson-Forssman-Lehmann syndrome: report of a case].
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.
D004423:Ear / Q000002:abnormalities; D004827:Epilepsy / Q000151:congenital*; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D006943:Hyperglycemia; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology*; D008297:Male; D008831:Microcephaly / Q000209:etiology*; D009765:Obesity / Q000209:etiology*; D010641:Phenotype; D000608:Renal Aminoacidurias; D013577:Syndrome
Síndrome de Börjeson-Forssman-Lehmann: relato de um caso.