Cho Sung Yoon, Lee Ji-Ho, Ki Chang-Seok, Chang Mi Sun, Jin Dong-Kyu, Han Heon-Seok
Department of Pediatrics, Hanyang University Guri Hopistal, Hanyang University College of Medicine, Guri.
Department of Pediatrics, Chungbuk National University Hospital, Chungbuk National University College of Medicine.
Ann Clin Lab Sci. 2015 Winter;45(1):100-5.
Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders characterized by susceptibility to bone fractures ranging in severity from perinatal death to a subtle increase in fracture frequency. We report the case of a patient who appeared healthy at birth and did not experience any fractures until 12 months of age. We observed blue sclera, frequent fractures without commensurate trauma, nearly normal stature, the absence of dentinogenesis imperfecta, no bony deformity, and no limitation of mobility in the patient--all characteristics suggestive of OI Type I. The patient's mother also had blue sclera and a history of frequent fracture episodes until the age of 15 years. A novel COL1A1 missense mutation (c.2T>G) disrupting the start codon of the gene (ATG to AGG (Met1Arg)) was found in the patient and his mother.
成骨不全症（OI）是一组异质性疾病，其特征是易发生骨折，严重程度从围产期死亡到骨折频率略有增加不等。我们报告了一例患者，该患者出生时看似健康，直到12个月大时才发生任何骨折。我们观察到该患者有蓝色巩膜、无相应外伤却频繁骨折、身高几乎正常、无牙本质生成不全、无骨骼畸形且无活动受限——所有这些特征均提示为Ⅰ型成骨不全症。患者的母亲也有蓝色巩膜，并有直到15岁时频繁骨折发作的病史。在患者及其母亲中发现了一种新的COL1A1错义突变（c.2T>G），该突变破坏了该基因的起始密码子（ATG变为AGG（Met1Arg））。
