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Purpose This study described a case with carbohydrate sulfotransferase 3 (CHST3) spondyloepiphyseal dysplasia and summarized all previously reported cases with CHST3-related skeletal dysplasia. Methods A 14.8-year-old boy underwent clinical and radiological evaluations, including high-resolution peripheral quantitative computed tomography. The patient and the family members underwent genetic tests. All CHST3-related skeletal dysplasia cases from PubMed and Embase were collected and analysed. Results The proband was found to have short lower limbs during a prenatal examination. At 11 years old, he had a compression fracture of L2. Since 13 years of age, he has complained of aggravated pain in the large joints. Physical examination showed a height Z score of -4.94, short limbs, and restricted movement of the elbows and knees. X-rays showed epiphyseal dysplasia of the carpal bones, enlargement of the left 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 (vBMD) were significantly lower, and the microarchitecture of the trabecular bone was poor 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 associated with mutations of CHST3. Over 90% of pathogenic variants are located in the sulfotransferase domain. Conclusion This patient with CHST3-related skeletal dysplasia has progressive joint pain and movement restriction, poor vBMD, and abnormalities of the microarchitecture of the trabecular bone. There is no apparent genotype-phenotype correlation in this disorder. |
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