特发性肥厚性主动脉瓣下狭窄合并皮肤神经纤维瘤病：病例报告
Idiopathic hypertrophic subaortic stenosis associated with cutaneous neurofibromatosis: report of a case.
作者信息
Elliott C M, Tajik A J, Giuliani E R, Gordon H
出版信息
Am Heart J. 1976 Sep;92(3):368-72. doi: 10.1016/s0002-8703(76)80118-4.
PMID:821327
Abstract
Although idiopathic hypertrophic subaortic stenosis has been studied extensively, its etiology has remained elusive. Recent reports of its association with neuroectodermal syndrome suggest that at least some cases may be the manifestation of a heritable defect of neuroectoderm. Consistent with this hypothesis, we report a case of idiopathic hypertrophic subaortic stenosis associated with neurofibromatosis.
摘要
尽管特发性肥厚性主动脉瓣下狭窄已得到广泛研究，但其病因仍不清楚。最近关于它与神经外胚层综合征相关的报道表明，至少某些病例可能是神经外胚层遗传性缺陷的表现。与这一假说相符，我们报告一例与神经纤维瘤病相关的特发性肥厚性主动脉瓣下狭窄病例。
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