Rossi P I, Scher L A, Friedman S G, Hall M H, Boxer R A, Bialer M G
Department of Surgery, North Shore University Hospital/New York University School of Medicine, Manhasset 11030, USA.
J Vasc Surg. 1998 Mar;27(3):549-51. doi: 10.1016/s0741-5214(98)70331-3.
We report case of a subclavian artery pseudoaneurysm in a patient with type IV Ehlers-Danlos Syndrome. A 16-year-old boy underwent successful repair of a subclavian artery pseudoaneurysm that occurred after a cervical hyperextension injury. Subsequent workup included skin biopsy and fibroblast culture, which were consistent with a diagnosis of type IV Ehlers-Danlos Syndrome. This condition is a dominantly inherited connective tissue disorder, which in this patient was found to be caused by a spontaneous point mutation in the COL3A1 gene that encodes the chains of type III procollagen. The clinical, genetic, and molecular characteristics of type IV Ehlers-Danlos Syndrome are briefly reviewed.
我们报告了一例患有IV型埃勒斯-当洛综合征患者的锁骨下动脉假性动脉瘤病例。一名16岁男孩成功修复了因颈椎过度伸展损伤后出现的锁骨下动脉假性动脉瘤。后续检查包括皮肤活检和成纤维细胞培养，结果与IV型埃勒斯-当洛综合征的诊断相符。这种疾病是一种常染色体显性遗传的结缔组织疾病，在该患者中发现是由编码III型前胶原链的COL3A1基因的自发点突变引起的。本文简要回顾了IV型埃勒斯-当洛综合征的临床、遗传和分子特征。
