Borjeson-Forssman-Lehmann syndrome: two severely handicapped females in a family

M Petridou; V Kimiskidis; K Deligiannis; A Kazis

doi:10.1016/s0303-8467(97)00011-5

Borjeson-Forssman-Lehmann syndrome: two severely handicapped females in a family

Clin Neurol Neurosurg. 1997 May;99(2):148-50. doi: 10.1016/s0303-8467(97)00011-5.

Authors

M Petridou¹, V Kimiskidis, K Deligiannis, A Kazis

Affiliation

¹ Department of Neurology, Papanikolaou General Hospital, Aristotle University of Thessaloniki, Greece.

PMID: 9213062
DOI: 10.1016/s0303-8467(97)00011-5

Abstract

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.

Publication types

Case Reports

MeSH terms

Craniofacial Abnormalities / diagnosis
Craniofacial Abnormalities / genetics*
Epilepsy, Tonic-Clonic / diagnosis
Epilepsy, Tonic-Clonic / genetics*
Female
Humans
Intellectual Disability / diagnosis
Intellectual Disability / genetics*
Neurologic Examination
Pedigree
Syndrome