目的 探讨PLOD 2基因变异致Bruck综合征2型的临床特征及基因特点。方法 回顾分析1例Bruck综合征 2型患儿的临床资料，并复习相关文献。结果 男性患儿，1岁8个月，因生后先天性关节挛缩、反复骨折就诊。二代测序 示患儿PLOD 2基因存在c.1829G>C和c.1559dupC复合杂合变异，分别来源于表型正常的父母。c.1829G>C为HGMD及 ClinVar数据库未报道过的变异位点，经ACMG指南评估为可能致病。结论 新的变异位点c.1829G>C扩大了PLOD 2基 因变异谱，多发骨折、先天性关节挛缩为PLOD 2基因变异导致Bruck综合征2型主要临床特征，早期诊断并给予双膦酸盐 治疗可改善预后。

Objective To investigate the clinical characteristics and mutation spectrum of children with type 2 Bruck syndrome caused by PLOD2 gene mutations. Methods The clinical data of a patient with Bruck syndrome type 2 were retrospective analyzed, and the relevant literature was reviewed. Results A male patient, 1 year and 8 months old, visited the clinic after birth due to congenital joint contracture and repeated fractures. Next-generation sequencing revealed a complex heterozygous variant of c. 1829 G>C and c. 1559 dupC in the PLOD 2 gene, which were derived from his unaffected mother and father, respectively. C. 1829 G>C was a likely pathogenic variant, which had not been reported in HGMD and ClinVar database. Conclusion The novel variant c. 1829 G>C expands the mutation spectrum of PLOD 2 gene. Multiple fractures and congenital joint contracture are the main clinical features of type 2 Bruck syndrome caused by PLOD 2 gene mutation, and early diagnosis and bisphosphonate therapy may improve prognosis of this condition.