Paterson C R, McAllion S J, Shaw J W
Acta Paediatr Scand. 1987 Jul;76(4):548-52. doi: 10.1111/j.1651-2227.1987.tb10519.x.
This paper reports a survey of 78 patients with osteogenesis imperfecta (OI) type IVA, the variant that causes the greatest difficulties in differential diagnosis. A subgroup of children aged between five and eleven were compared with a control group from local schools. Among the OI children there were, apart from the high number of fractures, also significantly increased incidences of bruising, nosebleeds, excessive sweating and hypermobility of joints. Although none of the children with OI type IV had the dark blue or grey sclerae of the type I disease, an appreciable number had pale blue sclerae in early childhood. Radiologically normal bone texture was seen at the time of the first fracture in 10 out of 17 patients. Hypertrophic callus was seen in five patients and metaphyseal fractures in four. We hope that the information on this large group of patients will assist in the prevention of diagnostic difficulties.
本文报告了一项对78例IVA型成骨不全症（OI）患者的调查，IVA型是在鉴别诊断中造成最大困难的一种变异类型。将一组5至11岁的儿童亚组与当地学校的对照组进行了比较。在OI儿童中，除了骨折数量众多外，瘀伤、鼻出血、多汗和关节活动过度的发生率也显著增加。虽然IV型OI儿童均没有I型疾病那种深蓝色或灰色巩膜，但相当数量的儿童在幼儿期有浅蓝色巩膜。17例患者中有10例在首次骨折时X线显示骨纹理正常。5例患者出现肥厚性骨痂，4例出现干骺端骨折。我们希望有关这一大组患者的信息将有助于预防诊断困难。
