12例黏多糖贮积症IV A型（莫尔基奥氏病）患者的临床发现。关于异质性的进一步证据。第三部分：齿状突发育异常。
Clinical findings in 12 patients with MPS IV A (Morquio's disease). Further evidence for heterogeneity. Part III: Odontoid dysplasia.
作者信息
Nelson J, Thomas P S
机构信息
Department of Medical Genetics, Royal Victoria Hospital, Belfast, Northern Ireland.
出版信息
Clin Genet. 1988 Feb;33(2):126-30. doi: 10.1111/j.1399-0004.1988.tb03423.x.
Abstract
Odontoid dysplasia in the absence or presence of atlanto-axial instability was found in all cases. In general, this correlated well with the overall clinical severity of the condition and illustrates the importance of careful follow-up of these patients. Symptoms or signs of cervical cord compression merit further investigation. Proven compromise of the upper cervical cord is an indication for posterior fusion of the upper cervical spine.
摘要
所有病例均发现存在或不存在寰枢椎不稳的齿状突发育异常。总体而言，这与病情的整体临床严重程度密切相关，也说明了对这些患者进行仔细随访的重要性。颈髓受压的症状或体征值得进一步检查。经证实的上颈髓受损是上颈椎后路融合术的指征。
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