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We studied four unrelated Turkish patients with DSS to advance understanding of the new nosology. Patient 1 suffered femur fractures beginning at age 1\u2009year. DSS was suspected from marked metaphyseal osteosclerosis in early childhood and subsequently platyspondyly accompanying patchy osteosclerosis of her appendicular skeleton. She harbored in\n                    <jats:italic>SLC29A3<\/jats:italic>\n                    , in 2012 the first gene associated with DSS, a unique homozygous duplication (c.303_320dup, p.102_107dupYFESYL). Patient 2 presented similarly with fractures and metaphyseal osteosclerosis but with no platyspondyly at age 2\u2009months. She was homozygous for a novel nonsense mutation in\n                    <jats:italic>SLC29A3<\/jats:italic>\n                    (c.1284C&gt;G, p.Tyr428*). Patient 3 had ocular disease at age 2\u2009years, presented for short stature at age 11\u2009years, and did not begin to fracture until age 16\u2009years. Radiographs showed mild platyspondyly and focal metaphyseal and femoral osteosclerosis. She was homozygous for a unique splice site mutation in\n                    <jats:italic>TNFRSF11A<\/jats:italic>\n                    (c.616+3A&gt;G). Patient 4 at age 2\u2009years manifested developmental delay and frequent infections but did not fracture. He had unique metadiaphyseal splaying and osteosclerosis, vertebral end\u2010plate osteosclerosis, and cortical thinning of long bones but no mutation was detected of\n                    <jats:italic>SLC29A3<\/jats:italic>\n                    ,\n                    <jats:italic>TNFRSF11A<\/jats:italic>\n                    ,\n                    <jats:italic>TCIRG1<\/jats:italic>\n                    ,\n                    <jats:italic>LRRK1<\/jats:italic>\n                    , or\n                    <jats:italic>CSF1R<\/jats:italic>\n                    associated with DSS. We find that DSS from defective\n                    <jats:italic>SLC29A3<\/jats:italic>\n                    presents earliest and with fractures. DSS from compromised\n                    <jats:italic>TNFRSF11A<\/jats:italic>\n                    can lead to optic atrophy as an early finding. Negative mutation analysis in patient 4 suggests further genetic heterogeneity underlying the skeletal phenotype of DSS. \u00a9 2022 The Authors.\n                    <jats:italic>JBMR Plus<\/jats:italic>\n                    published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research.\n                  <\/jats:p>","DOI":"10.1002\/jbm4.10663","type":"journal-article","created":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T02:53:28Z","timestamp":1656644008000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity"],"prefix":"10.1093","volume":"6","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5172-5402","authenticated-orcid":false,"given":"Serap","family":"Turan","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology and Diabetes Marmara University School of Medicine  Ba\u015f\u0131b\u00fcy\u00fck Mah. Maltepe Ba\u015f\u0131b\u00fcy\u00fck Yolu Sok. No:9\/2 Istanbul 34854 T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven","family":"Mumm","sequence":"additional","affiliation":[{"name":"Division of Bone and Mineral Diseases, Department of Internal Medicine Washington University School of Medicine  St. Louis MO USA"},{"name":"Center for Metabolic Bone Disease and Molecular Research Shriners Hospitals for Children  St. Louis MO USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ceren","family":"Alavanda","sequence":"additional","affiliation":[{"name":"Medical Genetics Marmara University Faculty of Medicine  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Betul Sare","family":"Kaygusuz","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Diabetes Marmara University School of Medicine  Ba\u015f\u0131b\u00fcy\u00fck Mah. Maltepe Ba\u015f\u0131b\u00fcy\u00fck Yolu Sok. No:9\/2 Istanbul 34854 T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Busra","family":"Gurpinar Tosun","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Diabetes Marmara University School of Medicine  Ba\u015f\u0131b\u00fcy\u00fck Mah. Maltepe Ba\u015f\u0131b\u00fcy\u00fck Yolu Sok. No:9\/2 Istanbul 34854 T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmet","family":"Arman","sequence":"additional","affiliation":[{"name":"Medical Genetics Marmara University Faculty of Medicine  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret","family":"Huskey","sequence":"additional","affiliation":[{"name":"Division of Bone and Mineral Diseases, Department of Internal Medicine Washington University School of Medicine  St. Louis MO USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tulay","family":"Guran","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Diabetes Marmara University School of Medicine  Ba\u015f\u0131b\u00fcy\u00fck Mah. Maltepe Ba\u015f\u0131b\u00fcy\u00fck Yolu Sok. No:9\/2 Istanbul 34854 T\u00fcrkiye"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shenghui","family":"Duan","sequence":"additional","affiliation":[{"name":"Division of Bone and Mineral Diseases, Department of Internal Medicine Washington University School of Medicine  St. Louis MO USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdullah","family":"Bereket","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology and Diabetes Marmara University School of Medicine  Ba\u015f\u0131b\u00fcy\u00fck Mah. Maltepe Ba\u015f\u0131b\u00fcy\u00fck Yolu Sok. 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