小儿成骨不全的诊断与治疗

Diagnosis and treatment strategy of children with osteogenesis imperfecta

目的探讨小儿成骨不全的诊断与治疗策略。方法对18例成骨不全息儿资料进行回顾性分析。结果 5例因母亲产前四维彩超检查发现胎儿肢体骨折畸形而诊断,予以引产;13例因频繁骨折及肢体畸形行X线检查和病理学检查确诊。13例均予以个体化药物和康复训练治疗,其中10例肢体严重骨折畸形患儿行手术治疗。随访13例,随访时间为5～36个月,平均21个月。患儿全身疼痛减轻,骨折频数下降,肢体畸形改善,肌力增强,自理能力提高。结论影像学、病理学联合检查可以确诊。综合个体化治疗效果确切。

Objective To research the diagnosis and treatment of children with osteogenesis imperfecta(OI).Methods The clinical data of 18 cases(S fetus and 13 child) with OI were analyzed retrospectively.Results 5 fetuses were found limbs fracture malformation by prenatal examination,and then were deliveried.13 children suffered from frequent fractures and limb deformities were diagnosed by X-ray and pathological examination.All the affected children received individualized drug treatment and rehabilitation training.10 children with severe fractures deformities of limb treated surgically.All the treated children were followed up for about 5 to 36 months,an average of about 21 months.13 children exhibited a satisfactory results,such as the easement of pain,decreased frequency of fractures,improvement of limb deformities,enhancement of muscle strength and improvement self-care ability.Conclusions A combination of imaging &pathology examination and comprehensive individual treatment are the practical diagnosis and treatment in children with OI.