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

被引：7

作者：

Petridou, M

Kimiskidis, V

Deligiannis, K

Kazis, A

机构：

[1] Department of Neurology, Papanikolaou General Hospital, Aristotle University of Thessaloniki

来源：

CLINICAL NEUROLOGY AND NEUROSURGERY | 1997年 / 99卷 / 02期

关键词：

Borjeson-Forssman-Lehmann syndrome; female; epilepsy;

D O I：

10.1016/S0303-8467(97)00011-5

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. (C) 1997 Elsevier Science B.V.

引用

页码：148 / 150

页数：3

共 8 条

[1]

BAAR HS, 1965, J MENT DEFIC RES, V9, P125

[2]

BORJESON M, 1962, ACTA MED SCAND, V171, P13

[3]

BRUN A, 1974, J MENT DEFIC RES, V18, P317

[4]

DEREYMAEKER AM, 1986, CLIN GENET, V29, P317

[5] LINKAGE LOCALIZATION OF BORJESON-FORSSMAN-LEHMANN SYNDROME [J].

MATHEWS, KD ;

ARDINGER, HH ;

NISHIMURA, DY ;

BUETOW, KH ;

MURRAY, JC ;

BARTLEY, JA .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 34 (04) :470-474

[6]

MULLEY JC, 1989, CYTOGENET CELL GENET, V51, P1049

[7] THE BORJESON-FORSSMAN-LEHMANN SYNDROME [J].

ROBINSON, LK ;

JONES, KL ;

CULLER, F ;

NYHAN, WL ;

SAKATI, N ;

JONES, KL .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1983, 15 (03) :457-468

[8] BORJESON-FORSSMAN-LEHMANN SYNDROME - CLINICAL MANIFESTATIONS AND GENE LOCALIZATION TO XQ26-27 [J].

TURNER, G ;

GEDEON, A ;

MULLEY, J ;

SUTHERLAND, G ;

RAE, J ;

POWER, K ;

ARTHUR, I .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 34 (04) :463-469

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