Fano V, Rodríguez Celin M, Del Pino M, Buceta S, Obregón M G, Primomo C, García H, Miscione H, Lejarraga H
Servicio de Crecimiento y Desarrollo, Hospital de Pediatría, Buenos Aires, Argentina.
An Pediatr (Barc). 2010 May;72(5):324-30. doi: 10.1016/j.anpedi.2009.12.022. Epub 2010 Apr 7.
Osteogenesis Imperfecta (OI) is a genetic disease, in which the main clinical features are increased bone fragility, pathological fractures, blue sclera, dentinogenesis imperfecta and conductive or mixed hearing loss. Clinical variability is wide. Although there is no curative treatment, there are several therapeutic tools capable of improving the course of the condition and patient quality of life.
Sixty-five children seen in a Paediatric Hospital during six months in 2007 were evaluated.
Thirty-five were type I OI, and thirty were types III-IV. Median age was 7.8 years (range 1.9-19.2); mean length of follow up was 4.7 years. The majority of children attended regular school for their corresponding age. Mean height was -1.4 sDS and -5.64 sDS in types I and III-IV respectively. Nineteen percent of patients were overweight and 11% were obese. Mean age at first orthopaedic surgery inserting telescopic rods was 6.5 years. Scoliosis was present in 44.6% of patients and was directly related to severity. Bleck's motor scale showed that 93% of patients with mild forms and 29% of severe forms had a sustainable walking ability. A wheelchair was used by 25% of patients. Family inheritance was confirmed in 65% of cases.
Integral care using a multidisciplinary approach is required due to the complexity and clinical variability of the condition.
成骨不全症（OI）是一种遗传性疾病，其主要临床特征为骨脆性增加、病理性骨折、蓝色巩膜、牙本质形成不全以及传导性或混合性听力损失。临床变异性很大。尽管尚无治愈性治疗方法，但有几种治疗手段能够改善病情发展及患者生活质量。
对2007年六个月内在一家儿科医院就诊的65名儿童进行了评估。
35例为I型OI，30例为III - IV型。中位年龄为7.8岁（范围1.9 - 19.2岁）；平均随访时间为4.7年。大多数儿童按相应年龄正常上学。I型和III - IV型的平均身高分别为 - 1.4标准差评分和 - 5.64标准差评分。19%的患者超重，11%的患者肥胖。首次进行可伸缩棒插入骨科手术的平均年龄为6.5岁。44.6%的患者存在脊柱侧弯，且与严重程度直接相关。布勒克运动量表显示，93%的轻症患者和29%的重症患者具有可持续行走能力。25%的患者使用轮椅。65%的病例证实有家族遗传。
鉴于该病的复杂性和临床变异性，需要采用多学科方法进行综合治疗。
