PLOD2基因变异复合杂合缺失致Ⅱ型Bruck综合征1例  

Case report of type Ⅱ Bruck syndrome caused by PLOD2 gene mutation combined with loss of heterozygosity

作　　者：刘宾宾[1] 张晋[1] 王倩倩 成毅 张利强[1] 白德明[1] 安果仙[2] 龙江涛[1] 李杰[1] Liu Binbin;Zhang Jin;Wang Qianqian;Cheng Yi;Zhang Liqiang;Bai Deming;An Guoxian;Long Jiangtao;Li Jie(Department of Orthopedics,Shanxi Children’s Hospital,Taiyuan 030025,China;Surgical Clinic,Shanxi Children’s Hospital,Taiyuan 030025,China)

机构地区：[1]山西省儿童医院骨科,太原030025 [2]山西省儿童医院外科门诊,太原030025

出　　处：《中华实用儿科临床杂志》2021年第23期1831-1833,共3页Chinese Journal of Applied Clinical Pediatrics

摘　　要：对2020年5月山西省儿童医院骨科收治的1例Ⅱ型Bruck综合征(Ⅱ型BS)患儿的临床特点及基因资料进行分析。患儿,男,3 d,因"出生3 d发现右下肢疼痛、肿胀"收入院。由于患儿存在全身多处骨折,锁骨、肋骨骨折后骨痂已形成,肱骨青枝骨折、右股骨骨折、左胫腓骨骨折、先天性马蹄内翻足、先天性双腕肘髋膝关节挛缩等临床特点,考虑不能排除染色体疾病,基因测序结果示患儿(先证者)PLOD2基因存在复合杂合缺失,突变及杂合缺失分别来源于其父母,确诊为Ⅱ型BS。提示临床医师注意识别PLOD2的1个错义突变和杂合缺失导致的Ⅱ型BS,从而降低漏诊误诊率,做到早诊断、早治疗。To analyze the clinical characteristics and genetic data of a child with type Ⅱ Bruce syndrome(type Ⅱ BS)admitted to the Department of Orthopedics,Shanxi Children's Hospital at May 2020.A 3-day-old boy was admitted due to the pain and swelling of the right lower limb 3 days after birth.Due to the patient had multiple fractures,callus formation after clavicle and rib fracture,greendstick fracture of the humerus,right femur fracture,left tibia and fibula fracture,congenital clubfoot,and congenital contracture of wrist,elbow,hip and knee joint,and therefore,chromosome diseases were considered.Gene sequencing data showed gene mutation in PLOD2 with compound heterozygosity deletion of the child(proband),and mutation and heterozygosity deletion came from their parents,respectively.The patient was diagnosed as type Ⅱ BS.This case report alarms clinicians to identify a missense mutation of PLOD2 and loss of heterozygosity,so as to reduce the misdiagnosis rate and achieve early diagnosis and treatment.

关 键 词：Bruck综合征 关节挛缩 成骨不全 PLOD2基因突变 

分 类 号：R725.9[医药卫生—儿科]