彭税　李俊　董宇

[关键词] 新生儿;成骨不全;骨骼发育障碍;文献复习

[中图分类号] R681.1          [文献标识码] C          [文章编号] 1673-9701（2021）23-0142-04

A case of osteogenesis imperfecta and literature review

PENG Shui1   LI Jun2   DONG Yu2

1.Changzhi Medical College， Changzhi   046000， China; 2.Changzhi People′s Hospital in Shanxi Province， Changzhi 046000， China;3.Department of Neonatology， Changzhi People′s Hospital in Shanxi Province， Changzhi   046000， China

[Abstract] Osteogenesis imperfecta （OI）， also known as brittle bone disease or brittle bone-blue sclera-deafness syndrome， is a rare congenital skeletal development disorder caused by bone matrix synthesis disorders and homeostasis disorders. The prevalence rate is only 1/20 000-1/15 000. The disease has an obvious family history and heredity. The inheritance is mainly autosomal dominant. Some cases are autosomal recessive inheritance and X chromosome-linked inheritance. There are also a few single cases. Most of the disease is caused by mutations in the important bone matrix protein type Ⅰ collagen encoding gene and its metabolism-related genes， which lead to various abnormalities such as the primary structure and quantity of collagen， post-translational modification， folding， intracellular transport and so on. It is characterized by decreased bone density and increased bone fragility. It is often clinically manifested as multiple fractures and a series of extraosseous manifestations. At present， 20 genetic genes have been recognized. According to the childs family history and prenatal ultrasound examination， the disease can be initially screened. Genetic testing after birth is the basis for the diagnosis. Failure to make a clear diagnosis before childbirth can lead to an increased risk of skeletal disease at birth， during， and after childbirth， seriously impair the quality of life of the child and even die. Early clinical diagnosis and administration of bisphosphonates and other drug treatments can help increase the patient′s bone density， reduce the risk of fractures， and improve the prognosis of the disease. This article reports a case of a typical family hereditary OI and a review of related literature as follows.

[Key words] Neonates; Osteogenesis imperfecta; Skeletal development disorders; Literature review

1 临床资料

患儿，男，主因“反应差、呼吸费力、口吐沫22 min”，于2020年7月21日22：55入住山西省长治市人民医院新生儿科重症监护室。患儿系G1P1，胎龄38周，孕母“双下肢肌无力、阵发性腹痛”于产科保守治疗1 d后，因“胎心监护示频发减速，考虑胎儿窘迫？”急诊剖宫产分娩，出生体重2200 g，羊水量正常、颜色清，胎盘正常，脐带缠绕身体1周，孕母妊娠合并贫血轻度。患儿出生后反应差，全身青紫，刺激不哭，呼吸微弱，心率50～60次/min，四肢呈软面条状，立即予以吸痰、清理呼吸道，球囊加压给氧联合胸外按压，30 s后心率上升至60次/min以上，停止胸外按压，继续球囊加压给氧，1 min末，心率上升至100次/min以上，出现哭声，躯干部皮肤转红，呼吸好转，但仍费力，肌张力明显好转，停止球囊加压给氧，Apgar评分1 min 8分，5 min 9分，进一步转入新生儿重症监护室。患儿自出生后少哭、哭声弱，口吐沫，呼吸费力，四肢青紫、冰凉，尚未开奶，未排大小便。患儿父母均为双下肢残疾人士：父亲可能系脆骨病，自7歲始经常摔倒后骨折，经常规骨科处理后痊愈，大概骨折发生有6、7次，至13岁此种现象渐消失，身高1.2 m;母亲系坐骨神经损伤，家属自述由于婴儿期臀部肌注药物损伤坐骨神经导致双下肢肌无力，身高1.5 m;患儿父亲小姨同患儿父亲症状。

入院查体：体重2.2 kg，身长44 cm，头围32 cm，体温不升，脉搏138次/min，呼吸66次/min，血压74/41 mmHg。反应差，哭声弱，呼吸费力，查体不合作。皮肤黏膜青紫、覆盖胎脂，臀部可见……