施瓦茨-扬佩尔综合征
The Schwartz-Jampel syndrome.
作者信息
al Gazali L I
机构信息
Department of Paediatrics, Faculty of Medicine and Health Sciences, UAE University, Al Ain.
出版信息
Clin Dysmorphol. 1993 Jan;2(1):47-54.
PMID:8298738
Abstract
Three sibs with severe manifestation of Schwartz-Jampel syndrome are described. All died due to respiratory complications. Early diagnosis might help to prevent this complication. In addition to electromyography, skeletal radiographs can be helpful in establishing the diagnosis. The radiological manifestations of this syndrome are reviewed.
摘要
本文描述了三例患有严重施瓦茨-扬佩尔综合征的同胞兄弟姐妹。他们均因呼吸并发症死亡。早期诊断可能有助于预防这种并发症。除肌电图检查外，骨骼X光片对确诊也有帮助。本文对该综合征的放射学表现进行了综述。
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引用本文的文献
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Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.施瓦茨-扬佩尔综合征的遗传异质性：两个患有新生儿施瓦茨-扬佩尔综合征的家族并不定位于人类染色体1p34 - p36.1。
J Med Genet. 1997 Aug;34(8):685-7. doi: 10.1136/jmg.34.8.685.
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Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.新生儿施瓦茨-扬佩尔综合征：阿联酋一种常见的常染色体隐性综合征。
J Med Genet. 1996 Mar;33(3):203-11. doi: 10.1136/jmg.33.3.203.
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