目的:我们报道了1例碳水化合物磺基转移酶3(CHST3)脊柱骨骨发育不良,并对以前报道的所有病例进行了系统评价。
方法:一名14.8岁男孩接受了临床,放射学,和基因评估。患者和五个年龄匹配的健康男孩接受了高分辨率的外周定量计算机断层扫描评估。收集并总结了PubMed和Embase的所有CHST3相关骨骼发育不良病例。分析基因型-表型相关性。
结果:先证者主诉关节疼痛加重,在他的第二个十年中,L2压缩性骨折。体格检查显示身高Z分-4.94,四肢短,肘部和膝盖的活动受限。X光显示腕骨骨骨发育不良,肘关节和膝关节增大,左髋关节半脱位.超声心动图显示心脏瓣膜异常。与规范相比,他的总和骨小梁体积骨密度(BMD),骨小梁的微结构在桡骨远端和胫骨有恶化的趋势。CHST3中c.1343T>G和c.761C>G的两个新颖错义变体是从他的父亲和母亲那里继承的,分别。在系统审查中,身材矮小,有限的接头延伸,关节痛,关节脱位是这种疾病最常见的特征。错义和非错义突变组之间的身高Z评分和听力障碍比例没有显着差异。
结论:进行性关节痛和运动受限是CHST3相关骨骼发育不良的主要特征。这种疾病的BMD和骨微结构需要进一步探索。在这种疾病中没有明显的基因型-表型相关性。
We reported a case with carbohydrate sulfotransferase 3 (
CHST3) spondyloepiphyseal dysplasia and made a systematic
review of all previously reported cases.
A 14.8-year-old boy underwent clinical, radiological, and genetic evaluations. The patients and five age-matched healthy boys accepted high-resolution peripheral quantitative computed tomography evaluation. All
CHST3-related skeletal dysplasia cases from PubMed and Embase were collected and summarized. The genotype-phenotype correlation was analyzed.
The proband complained of aggravated joint pain and had a compression fracture of L2 during his second decade. Physical examination showed a height Z score of -4.94, short limbs, and restricted movement of the elbows and knees. X-rays showed carpal epiphyseal dysplasia, enlargement of elbow and knee joints, and subluxation of the left hip. Echocardiography showed abnormal cardiac valves. Compared with the norm, his total and trabecular volumetric bone mineral density (BMD), and the microarchitecture of the trabecular bone had trends to be worse at the distal radius and tibia. Two novel missense variants of c.1343T>G and c.761C>G in
CHST3 were inherited from his father and mother, respectively. In the systematic
review, short stature, limited joint extension, joint pain, and joint dislocation were the most common characteristics of this disorder. Height Z score and the proportion of hearing impairment had no significant differences between the missense and nonmissense mutations groups.
Progressive joint pain and movement restriction are the main characteristics of CHST3-related skeletal dysplasia. BMD and bone microarchitecture of this disorder needs further exploration. There is no apparent genotype-phenotype correlation in this disorder.