{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,25]],"date-time":"2026-01-25T02:31:36Z","timestamp":1769308296204,"version":"3.49.0"},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,12,27]],"date-time":"2017-12-27T00:00:00Z","timestamp":1514332800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"BCCH Foundation as \u201c1st Collaborative Area of Innovation\u201d"},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes for Health Research","doi-asserted-by":"crossref","award":["301221"],"award-info":[{"award-number":["301221"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Genome BC and Genome Canada (ABC4DE Project)"},{"DOI":"10.13039\/501100000245","name":"Michael Smith Foundation for Health Research Scholar Award","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000245","id-type":"DOI","asserted-by":"crossref"}]},{"name":"BCCH Research Institute fellowship"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:p><jats:italic><jats:styled-content style=\"fixed-case\">SATB2<\/jats:styled-content><\/jats:italic>\u2010associated syndrome (<jats:styled-content style=\"fixed-case\">SAS<\/jats:styled-content>) is a rare disorder caused by alterations in the special <jats:styled-content style=\"fixed-case\">AT<\/jats:styled-content>\u2010rich sequence\u2010binding protein 2 (<jats:italic><jats:styled-content style=\"fixed-case\">SATB2<\/jats:styled-content><\/jats:italic>). Skeletal abnormalities such as tibial bowing, osteomalacia, osteopenia or osteoporosis have been reported suggesting a higher frequency of skeletal complications in <jats:styled-content style=\"fixed-case\">SAS<\/jats:styled-content>. The optimal timing, necessity, and methodology for routine assessment of bone health in individuals with <jats:styled-content style=\"fixed-case\">SAS<\/jats:styled-content>, however, remain unclear. We report molecular and phenotypic features of 7 individuals with <jats:styled-content style=\"fixed-case\">SAS<\/jats:styled-content> documented to have low bone mineral density (<jats:styled-content style=\"fixed-case\">BMD<\/jats:styled-content>) ascertained by dual\u2010energy X\u2010ray absorptiometry (<jats:styled-content style=\"fixed-case\">DXA<\/jats:styled-content>), often preceded by tibial bowing. The lowest <jats:styled-content style=\"fixed-case\">BMD<\/jats:styled-content> Z\u2010scores ranged \u22122.3 to \u22125.6. In 4 individuals, total alkaline phosphatase levels were elevated (2 with elevated bone fraction) around the time of low <jats:styled-content style=\"fixed-case\">BMD<\/jats:styled-content> documentation. A clinically significant fracture history and a diagnosis of pediatric osteoporosis were present in 4 individuals. Pamidronate treatment in 2 children improved <jats:styled-content style=\"fixed-case\">BMD<\/jats:styled-content>. In conclusion, low <jats:styled-content style=\"fixed-case\">BMD<\/jats:styled-content>, fractures, and tibial bowing are relatively common skeletal complications in individuals with <jats:styled-content style=\"fixed-case\">SAS<\/jats:styled-content>. <jats:styled-content style=\"fixed-case\">DXA<\/jats:styled-content> is a useful tool when evaluating a child with <jats:styled-content style=\"fixed-case\">SAS<\/jats:styled-content> suspected to have low <jats:styled-content style=\"fixed-case\">BMD<\/jats:styled-content> and the results might alter clinical management.<\/jats:p>","DOI":"10.1111\/cge.13121","type":"journal-article","created":{"date-parts":[[2017,8,8]],"date-time":"2017-08-08T14:42:47Z","timestamp":1502203367000},"page":"588-594","source":"Crossref","is-referenced-by-count":20,"title":["Bone health and <i><scp>SATB2<\/scp><\/i>\u2010associated 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