{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T23:15:25Z","timestamp":1769642125910,"version":"3.49.0"},"reference-count":33,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,9,27]],"date-time":"2021-09-27T00:00:00Z","timestamp":1632700800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>X-linked hypophosphatemia (XLH) is a rare genetic disorder characterized by lower limb deformity, gait and joint problems, and pain. Hence, quality of life is substantially impaired. This study aimed to assess lower limb deformity, specific radiographic changes, and gait deviations among adolescents and adults with XLH.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>Data on laboratory examination and gait analysis results were analyzed retrospectively. Deformities, osteoarthritis, pseudofractures, and enthesopathies on lower limb radiographs were investigated. Gait analysis findings were compared between the XLH group and the control group comprising healthy adults.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and Controls<\/jats:title><jats:p>Radiographic outcomes were assessed retrospectively in 43 patients with XLH (28 female, 15 male). Gait analysis data was available in 29 patients with confirmed XLH and compared to a healthy reference cohort (n=76).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Patients with XLH had a lower gait quality compared to healthy controls (Gait deviation index GDI 65.9% +\/- 16.2). About 48.3% of the study population presented with a greater lateral trunk lean, commonly referred to as waddling gait. A higher BMI and mechanical axis deviation of the lower limbs were associated with lower gait scores and greater lateral trunk lean. Patients with radiologic signs of enthesopathies had a lower GDI.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study showed for the first time that lower limb deformity, BMI, and typical features of XLH such as enthesopathies negatively affected gait quality among adolescents and adults with XLH.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fendo.2021.754084","type":"journal-article","created":{"date-parts":[[2021,9,27]],"date-time":"2021-09-27T16:30:36Z","timestamp":1632760236000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":35,"title":["Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia"],"prefix":"10.3389","volume":"12","author":[{"given":"Gabriel T.","family":"Mindler","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Kranzl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Stauffer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roland","family":"Kocijan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rudolf","family":"Ganger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christof","family":"Radler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriele","family":"Haeusler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adalbert","family":"Raimann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2021,9,27]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1038\/s41581-019-0152-5","article-title":"Clinical Practice Recommendations for the Diagnosis and Management of X-Linked Hypophosphataemia","volume":"15","author":"Haffner","year":"2019","journal-title":"Nat Rev Nephrol"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-15-0661","article-title":"Impaired Quality of Life in Adults With X-Linked Hypophosphatemia and Skeletal Symptoms","volume":"174","author":"Che","year":"2016","journal-title":"Eur J Endocrinol"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1016\/j.metabol.2019.154049","article-title":"Management of X-Linked Hypophosphatemia in Adults","author":"Lecoq","year":"2020","journal-title":"Metabolism"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1007\/s10354-019-00732-2","article-title":"Multidisciplinary Patient Care in X-Linked Hypophosphatemic Rickets: One\u00a0Challenge, Many Perspectives","volume":"170","author":"Raimann","year":"2020","journal-title":"Wien Med Wochenschr"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1210\/js.2018-00365","article-title":"The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey","volume":"3","author":"Skrinar","year":"2019","journal-title":"J Endocr Soc"},{"key":"B6","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1007\/s00198-020-05548-0","article-title":"Burden of Disease Associated With X-Linked Hypophosphataemia in Adults: A Systematic Literature Review","volume":"32","author":"Seefried","year":"2021","journal-title":"Osteoporos Int"},{"key":"B7","doi-asserted-by":"publisher","first-page":"298","DOI":"10.1302\/1863-2548.11.170003","article-title":"The Orthopaedic Management of Lower Limb Deformity in Hypophosphataemic Rickets","volume":"11","author":"Horn","year":"2017","journal-title":"J Child Orthop"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1007\/s11999-008-0547-2","article-title":"Deformity Correction in Children With Hereditary Hypophosphatemic Rickets","volume":"466","author":"Petje","year":"2008","journal-title":"Clin Orthop Relat Res"},{"key":"B9","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1016\/j.gaitpost.2020.07.007","article-title":"Disease-Specific Gait Deviations in Pediatric Patients With X-Linked Hypophosphatemia","volume":"81","author":"Mindler","year":"2020","journal-title":"Gait Posture"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgaa064","article-title":"Osteoarthritis, Osteophytes, and Enthesophytes Affect Biomechanical Function in Adults With X-Linked Hypophosphatemia","volume":"105","author":"Steele","year":"2020","journal-title":"J Clin Endocrinol Metab"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.171.2.2539609","article-title":"Whyte MP. 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