Borjeson-Forssman-Lehmann syndrome: two severely handicapped females in a family.
We report on a case of Borjeson-Forssman-Lehmann syndrome (BFS) in which two sisters appear with the clinical picture of severe mental handicap, dysmorphic features and grand mal seizures. Their mother presents the above symptomatology in a milder degree. It is one of the few reports in literature where females develop BFS in its typical clinical form.
Petridou
M
M
Department of Neurology, Papanikolaou General Hospital, Aristotle University of Thessaloniki, Greece.
Kimiskidis
V
V
Deligiannis
K
K
Kazis
A
A
D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D004830:Epilepsy, Tonic-Clonic / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D010375:Pedigree; D013577:Syndrome