Viljoen D, Goldblatt J, Thompson D, Beighton P
Clin Genet. 1987 Sep;32(3):196-201. doi: 10.1111/j.1399-0004.1987.tb03354.x.
A mother and her four children had gross generalized joint laxity, with multiple dislocations and subluxations, moderate skin hyperextensibility and mild connective tissue fragility. Their condition could be categorized in the Ehlers-Danlos syndrome Type III or the familial undifferentiated hypermobility group of disorders, but differed from these conditions by virtue of the severity of articular complications and the presence of wormian bones in the skulls. We consider that these patients have an undelineated connective tissue disorder; attempts at characterization at the molecular level are underway.
一位母亲及其四个孩子出现全身广泛性关节松弛，伴有多处脱位和半脱位、中度皮肤过度伸展以及轻度结缔组织脆弱。他们的病情可归类为Ⅲ型埃勒斯-当洛综合征或家族性未分化关节过度活动症组，但因关节并发症的严重程度以及颅骨中存在缝间骨而与这些病症有所不同。我们认为这些患者患有一种尚未明确的结缔组织疾病；目前正在进行分子水平的特征描述研究。
