埃勒斯-当洛综合征——伪装成原发性肌肉疾病。
Ehlers Danlos syndrome--masquerading as primary muscle disease.
作者信息
Banerjee G, Agarwal R K, Shembesh N M, el Mauhoub M
机构信息
Department of Pediatrics, Faculty of Medicine, Al-Arab Medical University, Benghazi, Libya.
出版信息
Postgrad Med J. 1988 Feb;64(748):126-7. doi: 10.1136/pgmj.64.748.126.
A 9 year old Libyan boy presented with a history of delayed walking and abnormal gait. The presence of marked muscle under-development with hypotonia led to the initial diagnosis of primary muscle disease; later, he was found to have hyperelastic, fragile skin and hypermobile joints-the cardinal features of Ehlers Danlos syndrome. In this instance the disease seems to have been inherited in an autosomal recessive manner.
一名9岁的利比亚男孩，有行走延迟和异常步态的病史。明显的肌肉发育不全伴肌张力减退，最初被诊断为原发性肌肉疾病；后来，发现他有皮肤弹性过度、脆弱，以及关节活动过度——这是埃勒斯-当洛综合征的主要特征。在这种情况下，该疾病似乎是以常染色体隐性方式遗传的。
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