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Previous studies have revealed that the syndrome is caused by pathogenic variants in the <jats:italic>XYLT2<\/jats:italic> gene. A patient with spondylo\u2010ocular syndrome and two heterozygous pathogenic variant in the <jats:italic>XYLT2<\/jats:italic> gene in compound state are described here. The patient presented with osteoporosis, platyspondyly, ocular findings, hearing loss, kyphosis, scoliosis, facial findings, intellectual disability, and undescended testicles. Previous reports of bisphosphonate treatment response were variable, whereas a long\u2010term follow\u2010up with bisphosphonate treatment in this case resulted in normalization of vertebral structures. Reporting such cases helps to determine the appropriate genotype\u2013phenotype correlation in patients with <jats:italic>XYLT2<\/jats:italic>\u2010related pathogenesis.<\/jats:p>","DOI":"10.1002\/ajmg.a.63163","type":"journal-article","created":{"date-parts":[[2023,2,23]],"date-time":"2023-02-23T13:50:06Z","timestamp":1677160206000},"page":"1581-1585","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Bisphosphonate treatment at s<scp>pondylo\u2010ocular<\/scp> syndrome due to a novel compound heterozygote variant in <scp><i>XYLT2<\/i><\/scp> and review of the literature"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7888-7295","authenticated-orcid":false,"given":"Gonul","family":"Buyukyilmaz","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology Ankara City Hospital  Ankara 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