Heim P, Raghunath M, Meiss L, Heise U, Myllylä R, Kohlschütter A, Steinmann B
Department of Paediatrics, University of Hamburg, Germany.
Acta Paediatr. 1998 Jun;87(6):708-10. doi: 10.1080/080352598750014184.
Ehlers-Danlos Syndrome Type VI (EDS VI) is a rare autosomal recessively inherited connective tissue disorder, which poses several problems of diagnosis and management. We report on a patient who developed severe kyphoscoliosis long before the diagnosis was reached. We conclude that early biochemical diagnosis and a timely operative procedure by extensive posterior instrumentation is the basis for successful management of this disorder.
Ⅵ型埃勒斯-当洛综合征（EDS Ⅵ）是一种罕见的常染色体隐性遗传性结缔组织疾病，存在诸多诊断和管理方面的问题。我们报告了一例在确诊前很早就出现严重脊柱后凸侧弯的患者。我们得出结论，早期生化诊断以及通过广泛后路内固定进行及时的手术操作是成功管理该疾病的基础。
