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 w...

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Bibliographic Details
Published in:Clinical neurology and neurosurgery 1997-05, Vol.99 (2), p.148-150
Main Authors: Petridou, Maria, Kimiskidis, Vasilios, Deligiannis, Konstantinos, Kazis, Aristides
Format: Article
Language:English
Subjects:
Borjeson-Forssman-Lehmann syndrome
Craniofacial Abnormalities - diagnosis
Craniofacial Abnormalities - genetics
Epilepsy
Epilepsy, Tonic-Clonic - diagnosis
Epilepsy, Tonic-Clonic - genetics
Female
Humans
Intellectual Disability - diagnosis
Intellectual Disability - genetics
Neurologic Examination
Pedigree
Syndrome
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Summary: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.
ISSN:0303-8467
1872-6968
DOI:10.1016/S0303-8467(97)80014-5