Schwartz syndrome: myotonia with blepharophimosis and limitation of joints.
作者信息
Saadat M, Mokfi H, Vakil H, Ziai M
出版信息
J Pediatr. 1972 Aug;81(2):348-50. doi: 10.1016/s0022-3476(72)80310-x.
PMID:5042497
Abstract
摘要
相似文献
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Schwartz syndrome: myotonia with blepharophimosis and limitation of joints.
J Pediatr. 1972 Aug;81(2):348-50. doi: 10.1016/s0022-3476(72)80310-x.
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Chondrodystrophic myotonia: report of two cases. Myotonia, dwarfism, diffuse bone disease, and unusual ocular and facial abnormalities.软骨发育不良性肌强直：两例报告。肌强直、侏儒症、弥漫性骨病以及特殊的眼部和面部异常。
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Continuous muscle fiber activity in the Schwartz-Jampel syndrome.
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The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient. Evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23?
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[Schwart-Jampel osteo-chondro-muscular dystrophy. 2 familial cases].[施瓦尔特-扬佩尔骨软骨肌肉营养不良。2例家族性病例]
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引用本文的文献
1
Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome.晚发性婴儿常染色体隐性遗传性肌强直、智力发育迟缓及骨骼异常：一种新的常染色体隐性综合征。
J Med Genet. 1984 Apr;21(2):103-7. doi: 10.1136/jmg.21.2.103.
2
Schwartz-Jampel syndrome in two daughters of first cousins.近亲结婚的两个女儿患施瓦茨-扬佩尔综合征。
J Neurol Neurosurg Psychiatry. 1978 Feb;41(2):161-9. doi: 10.1136/jnnp.41.2.161.
3
Morphologic studies in the skeletal dysplasias.骨骼发育异常的形态学研究。
Am J Pathol. 1979 Sep;96(3):813-70.
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