Case report of type Ⅱ Bruck syndrome caused by PLOD2 gene mutation combined with loss of heterozygosity
10.3760/cma.j.cn101070-20200707-01136
- VernacularTitle:PLOD2基因变异复合杂合缺失致Ⅱ型Bruck综合征1例
- Author:
Binbin LIU
1
;
Jin ZHANG
;
Qianqian WANG
;
Yi CHENG
;
Liqiang ZHANG
;
Deming BAI
;
Guoxian AN
;
Jiangtao LONG
;
Jie LI
Author Information
1. 山西省儿童医院骨科，太原 030025
- Keywords:
Bruck syndrome;
Joint contracture;
Osteogenesis imperfecta;
PLOD2 gene mutation
- From:
Chinese Journal of Applied Clinical Pediatrics
2021;36(23):1831-1833
- CountryChina
- Language:Chinese
-
Abstract:
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.
