Jukkola A, Kauppila S, Risteli L, Vuopala K, Risteli J, Leisti J, Pajunen L
Department of Oncology, University of Oulu, Finland.
J Med Genet. 1998 Jun;35(6):513-8. doi: 10.1136/jmg.35.6.513.
We describe the clinical findings and biochemical features of a male child suffering from a so far undescribed lethal connective tissue disorder characterised by extreme hypermobility of the joints, lax skin, cataracts, severe growth retardation, and insufficient production of type I and type III procollagens. His features are compared with Ehlers-Danlos type IV, De Barsy syndrome, and geroderma osteodysplastica, as these disorders show some symptoms and signs shared with our patient. The child died because of failure of the connective tissue structures joining the skull and the spine, leading to progressive spinal stenosis. The aortic valve was translucent and insufficient. The clinical symptoms and signs, together with histological findings, suggested a collagen defect. Studies on both skin fibroblast cultures and the patient's serum showed reduced synthesis of collagen types I and III at the protein and RNA levels. The sizes of the mRNAs and newly synthesised proteins were normal, excluding gross structural abnormalities. These findings are not in accordance with any other collagen defect characterised so far.
我们描述了一名男童的临床症状和生化特征，该男童患有一种迄今为止尚未描述的致命性结缔组织疾病，其特征为关节极度活动过度、皮肤松弛、白内障、严重生长发育迟缓以及I型和III型前胶原产生不足。将他的特征与IV型埃勒斯-当洛综合征、德巴尔西综合征和骨质发育不全性皮肤老化症进行了比较，因为这些疾病表现出与我们的患者相同的一些症状和体征。该患儿因连接颅骨和脊柱的结缔组织结构衰竭而死亡，导致进行性椎管狭窄。主动脉瓣半透明且功能不全。临床症状和体征以及组织学检查结果提示存在胶原蛋白缺陷。对皮肤成纤维细胞培养物和患者血清的研究表明，在蛋白质和RNA水平上，I型和III型胶原蛋白的合成减少。信使核糖核酸（mRNA）和新合成蛋白质的大小正常，排除了明显的结构异常。这些发现与迄今为止所描述的任何其他胶原蛋白缺陷均不相符。
