M. Petridou et al., BORJESON-FORSSMAN-LEHMANN-SYNDROME - 2 SEVERELY HANDICAPPED FEMALES IN A FAMILY, Clinical neurology and neurosurgery, 99(2), 1997, pp. 148-150
We report on a case of Borjeson-Forssman-Lehmann syndrome (BFS) in whi
ch two sisters appear with the clinical picture of severe mental handi
cap, dysmorphic features and grand mal seizures. Their mother presents
the above symptomatology in a milder degree. It is one of the few rep
orts in literature where females develop BFS in its typical clinical f
orm. (C) 1997 Elsevier Science B.V.