Behrens-Baumann W, Gebauer H J, Langenbeck U
Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1977 Dec 31;204(4):235-46. doi: 10.1007/BF00415317.
Two children born on Crete of consanguinous parents presented the following manifestations of the ocular type of Ehlers-Danlos syndrome (EDS): blue sclerae, keratoglobus and rupture of cornea following minor trauma. In cultivated fibroblasts of one of the patients there was no evidence of defective lysine hydroxylation. The possible relation of our case to a recent similar report by Judisch et al. (1976) is discussed. The ocular type of EDS may be genetically heterogenous. Provisionally, we propose for cases with normal lysyl hydroxylation in vitro the term 'type VIII of EDS'.
两名出生在克里特岛的近亲结婚夫妇的孩子出现了眼型埃勒斯-当洛综合征(EDS)的以下表现:蓝色巩膜、球形角膜以及轻微外伤后角膜破裂。在其中一名患者的培养成纤维细胞中,没有证据表明赖氨酸羟化存在缺陷。本文讨论了我们的病例与朱迪施等人(1976年)最近一份类似报告的可能关系。眼型EDS可能在遗传上是异质性的。我们暂时建议,对于体外赖氨酸羟化正常的病例,使用“EDS VIII型”这一术语。