{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T12:55:34Z","timestamp":1772196934601,"version":"3.50.1"},"reference-count":0,"publisher":"Universa BV","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,29]]},"abstract":"<jats:p>X-linked hypophosphatemic rickets (XLHR) is a rare hereditary disease. To date, the diagnosis and treatment of XLHR is still in dilemma due to a lack of cases. In the consensus recommendations for the XLHR proposed in Belgium, next-generation sequencing (NGS) is recommended in several genetic centers for PHEX and other skeletal dysplasia genes. We reported our experiences on the diagnosis and treatment of XLHR. A 17-year-old boy with a body height of 1.3 meters presented to our department with a compound deformity of lower limbs. He showed a visual analogue scale (VAS) of 3, short form 36 questionnaire (SF-36) of 90 scores, and health assessment questionnaire (HAQ) of 23. Laboratory examinations showed increased serum alkaline phosphatase levels (369 U\/L) and decreased blood phosphorus levels (0.58 mmol\/L). The whole exome sequencing (WES) showed mutation of PHEX gene (NM_000444.6: exon18: c.1853T&gt;G: p.M618R) in the patient and his mother. The patient was finally diagnosed with XLHR. The patient received Ilizarov technique combined with multi-segment osteotomy to correct lower limb deformity. Finally, the patient was able to walk independently and take care of himself without any complications. This may provide a reference for the diagnosis and treatment of XLHR.<\/jats:p>","DOI":"10.52628\/91.3.13791","type":"journal-article","created":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T11:56:24Z","timestamp":1772193384000},"page":"357","source":"Crossref","is-referenced-by-count":0,"title":["X-linked hypophosphatemic rickets: a rare case report"],"prefix":"10.52628","volume":"91","author":[{"given":"L","family":"YUAN","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W","family":"CHEN","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"LI","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"XU","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"ZHANG","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"ZHOU","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"DIAO","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"ZHONG","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"27062","published-online":{"date-parts":[[2026,2,24]]},"container-title":["Acta Orthopaedica Belgica"],"original-title":[],"deposited":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T11:56:25Z","timestamp":1772193385000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.actaorthopaedica.be\/archive\/volume-91\/autumn\/pediatric\/x-linked-hypophosphatemic-rickets-a-rare-case-report\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,29]]},"references-count":0,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2026,2,24]]},"published-print":{"date-parts":[[2025,9,29]]}},"URL":"https:\/\/doi.org\/10.52628\/91.3.13791","relation":{},"ISSN":["0001-6462"],"issn-type":[{"value":"0001-6462","type":"print"}],"subject":[],"published":{"date-parts":[[2025,9,29]]}}}