全肠道无神经节症。一种常染色体隐性疾病？
Total intestinal aganglionosis. An autosomal recessive condition?
作者信息
MacKinnon A E, Cohen S J
出版信息
Arch Dis Child. 1977 Nov;52(11):898-9. doi: 10.1136/adc.52.11.898.
Abstract
A case of total intestinal aganglionosis in a sib of a previously recorded patient is presented. The number of cases now reported is 9 in six families. The possibility that this condition is a distinct entity inherited in an autosomal recessive manner is discussed.
摘要
本文报告了一例先前记录患者的同胞患全肠道无神经节症的病例。目前在六个家庭中报告的病例数为9例。本文讨论了这种疾病是以常染色体隐性方式遗传的一种独特病症的可能性。
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Children of those treated surgically for Hirschsprung's disease.因先天性巨结肠接受手术治疗的患者的子女。
J Med Genet. 1981 Apr;18(2):87-90. doi: 10.1136/jmg.18.2.87.
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Waardenburg's syndrome associated with total aganglionosis.Waardenburg综合征合并完全性无神经节症。
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本文引用的文献
1
Megacolon, with particular reference to Hirschsprung's disease.巨结肠，尤其指先天性巨结肠。
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Aganglionosis of the small intestine.小肠无神经节症
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Total intestinal aganglionosis presenting as duodenal obstruction.表现为十二指肠梗阻的全肠无神经节症
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