SCHWARTZ-JAMPEL SYNDROME - AN ATYPICAL FORM

被引：14

作者：

FIGUERA, LE

JIMENEZGIL, FJ

GARCIACRUZ, MO

CANTU, JM

机构：

[1] IMSS,DIV GENET,UIBO,AP 1-3838,GUADALAJARA,JALISCO,MEXICO

[2] IMSS,HOSP ESPECIALIDADES,SERV NEUROL,GUADALAJARA,JALISCO,MEXICO

[3] IMSS,CTR MED NACL OCCIDENTE,GUADALAJARA,JALISCO,MEXICO

[4] IMSS,HGR 46,GUADALAJARA,JALISCO,MEXICO

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1993年 / 47卷 / 04期

关键词：

ALLELISM; AUTOSOMAL RECESSIVE; BLEPHAROPHIMOSIS; CHONDRODYSTROPHY; CONTIGUOUS GENES; MYOTONIA; ORAL ALTERATIONS; SCHWARTZ-JAMPEL SYNDROME;

D O I：

10.1002/ajmg.1320470416

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The Schwartz-Jampel syndrome (SJS) is an autosomal recessive disorder of myotonia, short stature, ''mask-like'' face, blepharophimosis, stiff joints, spinal malalignment, and pectus carinatum. The authors report on a 10-year-old girl with expressionless face, blepharophimosis, mild thoracic asymmetry, and myotonic electromyographic pattern, but without osteoarticular, spinal, and statural involvement. This appears to be one of the mildest form of SJS described so far. Contiguous genes could be an explanation for this and other atypical cases of SJS. (C) 1993 Wiley-Liss, Inc.

引用

页码：526 / 528

页数：3

共 6 条

[1]

ABELFELD DC, 1990, BIRTH DEFECTS ENCY, P321

[2]

BEIGHTON P, 1978, INHERITED DISORDERS, P44

[3]

GOODMAN RM, 1986, MALFORMACIONES LACTA, P312

[4]

MCKUSICK VA, 1992, MENDELIAN INHERITANC, V2, P1580