Hamada S, Hiroshima K, Oshita S, Doi T, Ono K
Department of Orthopaedic Surgery, Osaka Rosai Hospital, Japan.
J Bone Joint Surg Br. 1992 Nov;74(6):902-5. doi: 10.1302/0301-620X.74B6.1447255.
We report four patients with a form of Ehlers-Danlos syndrome associated with soft-tissue contractures from birth and skin hyperalgesia. In early infancy, these cases were thought to be forms of arthrogryposis multiplex congenita, Larsen's syndrome or Marfan's syndrome. The characteristic triad of signs of Ehlers-Danlos disease gradually appeared from four to six years of age, allowing us to establish the correct diagnosis. We discuss the differential diagnosis of these connective-tissue disorders and the problems of the orthopaedic treatment of the associated joint deformities. Ehlers-Danlos syndrome is a heterogeneous group of metabolic diseases of collagen and our cases constitute a group which is distinct from the conventional types.
我们报告了4例患有某种埃勒斯-当洛综合征的患者，他们自出生起就伴有软组织挛缩和皮肤痛觉过敏。在婴儿早期，这些病例被认为是先天性多发性关节挛缩症、拉森综合征或马方综合征的形式。埃勒斯-当洛病的典型三联征在4至6岁时逐渐显现，使我们能够做出正确诊断。我们讨论了这些结缔组织疾病的鉴别诊断以及相关关节畸形的骨科治疗问题。埃勒斯-当洛综合征是一组异质性的胶原蛋白代谢疾病，我们的病例构成了一个与传统类型不同的群体。
