SCHWARTZ-JAMPEL SYNDROME WITH DOMINANT INHERITANCE

被引：22

作者：

PASCUZZI, RM ^{[1
]}

GRATIANNE, R ^{[1
]}

AZZARELLI, B ^{[1
]}

KINCAID, JC ^{[1
]}

机构：

[1] INDIANA UNIV,MED CTR,DEPT PATHOL,INDIANAPOLIS,IN 46202

来源：

MUSCLE & NERVE | 1990年 / 13卷 / 12期

关键词：

muscle fiber activity; continuous; myotonia; Schwartz–Jampel syndrome; skeletal deformities;

D O I：

10.1002/mus.880131210

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The Schwartz–Jampel syndrome (SJS) is a rare congenital multisystem disorder of unknown pathogenesis which is characterized by distinct faces, skeletal deformities, joint contractures, short stature, muscle hypertrophy, clinical myotonia, and continuous muscle fiber activity. The inheritance pattern of SJS has been assumed to be autosomal recessive. We report the occurrence of the classic SJS syndrome in both a father and son in a non‐consanguineous family, suggesting that SJS has the potential for a dominant pattern of inheritance. Copyright © 1990 John Wiley & Sons, Inc.

引用

页码：1152 / 1163

页数：12

共 29 条

[1] CHONDRODYSTROPHIC MYOTONIA - REPORT OF 2 CASES - MYOTONIA, DWARFISM, DIFFUSE BONE DISEASE, AND UNUSUAL OCULAR AND FACIAL ABNORMALITIES [J].

ABERFELD, DC ;

NAMBA, T ;

VYE, MV ;

GROB, D .

ARCHIVES OF NEUROLOGY, 1970, 22 (05) :455-&

[2]

ABERFELD DC, 1965, BRAIN, P313

[3] LIMB MYOKYMIA [J].

ALBERS, JW ;

ALLEN, AA ;

BASTRON, JA ;

DAUBE, JR .

MUSCLE & NERVE, 1981, 4 (06) :494-504

[4]

CADILHAC J, 1975, Electromyography and Clinical Neurophysiology, V15, P5

[5] SCHWARTZ-JAMPEL SYNDROME - CLINICAL, ELECTROPHYSIOLOGICAL AND HISTOPATHOLOGICAL STUDY OF A SEVERE VARIANT [J].

CAO, A ;

CIANCHETTI, C ;

CALISTI, L ;

DEVIRGILIIS, S ;

FERRELI, A ;

TANGHERONI, W .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1978, 35 (2-3) :175-187

[6]

Catel W, 1951, DIFFERENTIAL DIAGNOS, P48

[7] CHONDRODYSTROPHIC MYOTONIA (SCHWARTZ-JAMPEL SYNDROME) - REPORT OF A NEW CASE AND FOLLOW-UP OF PATIENTS INITIALLY REPORTED IN 1969 [J].

EDWARDS, WC ;

ROOT, AW .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1982, 13 (01) :51-56

[8] CASE OF SCHWARTZ-JAMPEL SYNDROME WITH UNUSUAL MUSCLE BIOPSY FINDINGS [J].

FARIELLO, R ;

MELOFF, K ;

MURPHY, EG ;

REILLY, BJ ;

ARMSTRONG, D .

ANNALS OF NEUROLOGY, 1978, 3 (01) :93-96

[9] NEONATAL MANIFESTATIONS OF SCHWARTZ-JAMPEL SYNDROME [J].

FARRELL, SA ;

DAVIDSON, RG ;

THORP, P .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 27 (04) :799-805

[10] SCHWARTZ-JAMPEL SYNDROME WITH AUTOSOMAL-DOMINANT INHERITANCE [J].

FERRANNINI, E ;

PERNIOLA, T ;

KRAJEWSKA, G ;

SERLENGA, L ;

TRIZIO, M .

EUROPEAN NEUROLOGY, 1982, 21 (03) :137-146

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