Sussman M, Lichtenstein J R, Nigra T P, Martin G R, McKusick V A
J Bone Joint Surg Am. 1974 Sep;56(6):1228-34.
Two sibs with the Ehlers-Danlos syndrome, one of whom was shown to have hydroxylysine-deficient collagen, are described. In addition to the usual features of the Ehlers-Danlos syndrome (loose-jointedness and excessively stretchable, fragile, and bruisable skin), these patients had severe scoliosis and fragility of ocular tissues leading to rupture of the globe or retinal detachment. This combination of symptoms was tentatively classified as Ehlers-Danlos syndrome, Type VI. The condition is inherited as an autosomal recessive. The activity of lysyl hydroxylase was present at a reduced level in fibroblasts cultured from the patient's skin.
本文描述了两例患有埃勒斯-当洛综合征的同胞，其中一例被证明存在羟赖氨酸缺乏的胶原蛋白。除了埃勒斯-当洛综合征的常见特征（关节松弛、皮肤过度伸展、脆弱且易瘀伤）外，这些患者还患有严重的脊柱侧弯和眼组织脆弱，导致眼球破裂或视网膜脱离。这种症状组合被初步归类为VI型埃勒斯-当洛综合征。该病症以常染色体隐性方式遗传。从患者皮肤培养的成纤维细胞中，赖氨酰羟化酶的活性水平降低。
