{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:00:14Z","timestamp":1760144414643,"version":"build-2065373602"},"reference-count":14,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T00:00:00Z","timestamp":1713398400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Science and Technology Council","award":["NSTC 111-2314-B-006-117","NSTC 112-2314-B-006-072","NCKUH-11303051"],"award-info":[{"award-number":["NSTC 111-2314-B-006-117","NSTC 112-2314-B-006-072","NCKUH-11303051"]}]},{"DOI":"10.13039\/501100004844","name":"National Cheng Kung University Hospital","doi-asserted-by":"publisher","award":["NSTC 111-2314-B-006-117","NSTC 112-2314-B-006-072","NCKUH-11303051"],"award-info":[{"award-number":["NSTC 111-2314-B-006-117","NSTC 112-2314-B-006-072","NCKUH-11303051"]}],"id":[{"id":"10.13039\/501100004844","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Higher Education Sprout Project, Ministry of Education to the Headquarters of University Advancement at National Cheng Kung University (NCKU)","award":["NSTC 111-2314-B-006-117","NSTC 112-2314-B-006-072","NCKUH-11303051"],"award-info":[{"award-number":["NSTC 111-2314-B-006-117","NSTC 112-2314-B-006-072","NCKUH-11303051"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>This case report sheds light on the management of skeletal deformity in a young child with X-linked hypophosphatemia (XLH), emphasizing the significance of a timely orthotic intervention alongside pharmacological treatment, which is a strategy not frequently highlighted in the XLH literature. The patient, a 2-year-and-7-month-old female, presented with classic XLH symptoms, including short stature, pronounced genu varum, and hypophosphatemia, with deformities observed in both the coronal and sagittal planes of the femur and tibia. Despite initial reliance on pharmacotherapy, which proved insufficient for skeletal realignment, the integration of orthotic treatment at age 3 marked a pivotal turn in the management strategy. By the age of 5 years and 9 months, this combined approach yielded significant improvements: the deformities in the femur and tibia were notably corrected, tibial torsion was addressed, and enhanced limb alignment was achieved, as corroborated by radiographic evidence. This case underscores the effectiveness of orthotic intervention as a critical and underemphasized adjunct to pharmacological therapy in managing XLH in early childhood. It advocates for the early inclusion of orthotic measures to optimize treatment outcomes and expand the range of management strategies for limb deformities.<\/jats:p>","DOI":"10.3390\/children11040487","type":"journal-article","created":{"date-parts":[[2024,4,18]],"date-time":"2024-04-18T10:30:52Z","timestamp":1713436252000},"page":"487","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Non-Surgical Strategies for Managing Skeletal Deformities in a Child with X-Linked Hereditary Hypophosphatemic Ricket: Insights and Perspectives"],"prefix":"10.3390","volume":"11","author":[{"given":"Tung-Hee","family":"Tie","sequence":"first","affiliation":[{"name":"Department of Orthopedics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan"},{"name":"Medical Device R & D Core Laboratory, National Cheng Kung University Hospital, Tainan 704, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei-Han","family":"Lin","sequence":"additional","affiliation":[{"name":"School of Medicine, National Cheng Kung University, Tainan 701, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming-Tung","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Orthopedics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Po-Ting","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Orthopedics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan"},{"name":"Medical Device R & D Core Laboratory, National Cheng Kung University Hospital, Tainan 704, Taiwan"},{"name":"Department of Orthopedics, College of Medicine, National Cheng Kung University, Tainan 701, Taiwan"},{"name":"Department of Biomedical Engineering, National Cheng Kung University, Tainan 701, Taiwan"},{"name":"Department of Biochemistry and Molecular Biology, College of Medicine, National Cheng Kung University, Tainan 701, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1057-3315","authenticated-orcid":false,"given":"Meng-Che","family":"Tsai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yen-Yin","family":"Chou","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chih-Kai","family":"Hong","sequence":"additional","affiliation":[{"name":"Department of Orthopedics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chii-Jeng","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Orthopedics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan"},{"name":"Department of Orthopedic Surgery, Show Chwan Memorial Hospital, Changhua 500, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5520-5623","authenticated-orcid":false,"given":"Chien-An","family":"Shih","sequence":"additional","affiliation":[{"name":"Department of Orthopedics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan 704, Taiwan"},{"name":"Medical Device R & D Core Laboratory, National Cheng Kung University Hospital, Tainan 704, Taiwan"},{"name":"Department of Orthopedics, College of Medicine, National Cheng Kung University, Tainan 701, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,4,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Okawa, R., Hamada, M., Takagi, M., Matayoshi, S., and Nakano, K. (2022). A Case of X-Linked Hypophosphatemic Rickets with Dentin Dysplasia in Mandibular Third Molars. Children, 9.","DOI":"10.3390\/children9091304"},{"key":"ref_2","first-page":"e10744","article-title":"Asia-Pacific Consensus Recommendations on X-Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care","volume":"7","author":"Munns","year":"2023","journal-title":"J. Bone Miner. Res. Plus"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"435","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":"ref_4","doi-asserted-by":"crossref","first-page":"488","DOI":"10.3390\/endocrines3030039","article-title":"Orthopedic Complications and Management in Children with X-Linked Hypophosphatemia","volume":"3","author":"Higuchi","year":"2022","journal-title":"Endocrines"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"e3241","DOI":"10.1210\/clinem\/dgac296","article-title":"Effect of Burosumab Compared With Conventional Therapy on Younger vs. Older Children With X-linked Hypophosphatemia","volume":"107","author":"Ward","year":"2022","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_6","doi-asserted-by":"crossref","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. 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Roentgenol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"115964","DOI":"10.1016\/j.bone.2021.115964","article-title":"Validation of the Radiographic Global Impression of Change (RGI-C) score to assess healing of rickets in pediatric X-linked hypophosphatemia (XLH)","volume":"148","author":"Lim","year":"2021","journal-title":"Bone"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1034580","DOI":"10.3389\/fendo.2022.1034580","article-title":"Burosumab for X-linked hypophosphatemia in children and adolescents: Opinion based on early experience in seven European countries","volume":"13","author":"Mughal","year":"2022","journal-title":"Front. Endocrinol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"2416","DOI":"10.1016\/S0140-6736(19)30654-3","article-title":"Burosumab versus conventional therapy in children with X-linked hypophosphataemia: A randomised, active-controlled, open-label, phase 3 trial","volume":"393","author":"Imel","year":"2019","journal-title":"Lancet"},{"key":"ref_13","first-page":"14","article-title":"Kashisouguryouhou wo okonatta teirinnkesshousei-kurubyo (hypophosphatemic rickets) kannjinokeika","volume":"26","author":"Eguchi","year":"2017","journal-title":"Nippon. Shouniseikeigeka Gakkai Shi"},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Jansen, N.J., Dockx, R.B.M., Witlox, A.M., Straetemans, S., and Staal, H.M. (2022). Windswept Deformity a Disease or a Symptom? A Systematic Review on the Aetiologies and Hypotheses of Simultaneous Genu Valgum and Varum in Children. Children, 9.","DOI":"10.3390\/children9050703"}],"container-title":["Children"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2227-9067\/11\/4\/487\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T14:30:24Z","timestamp":1760106624000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2227-9067\/11\/4\/487"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,18]]},"references-count":14,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2024,4]]}},"alternative-id":["children11040487"],"URL":"https:\/\/doi.org\/10.3390\/children11040487","relation":{},"ISSN":["2227-9067"],"issn-type":[{"type":"electronic","value":"2227-9067"}],"subject":[],"published":{"date-parts":[[2024,4,18]]}}}