{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T20:59:25Z","timestamp":1783717165136,"version":"3.55.0"},"reference-count":52,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2023,3,14]],"date-time":"2023-03-14T00:00:00Z","timestamp":1678752000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JBMR Plus"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Craniosynostosis is a rare condition of skull development, manifesting during fetal and early infant development, and is usually congenital. Craniosynostosis secondary to metabolic disorders, such as X\u2010linked hypophosphatemia (XLH), is less common and is typically diagnosed later than congenital craniosynostosis. XLH is a rare, progressive, and lifelong hereditary phosphate\u2010wasting disorder characterized by loss of function of the phosphate\u2010regulating endopeptidase homologue, X\u2010linked gene, which is associated with premature fusion of cranial sutures due to abnormal phosphate metabolism (hypophosphatemia) and altered bone mineralization or elevated levels of fibroblast growth factor 23. This targeted literature review of 38 articles seeks to provide an overview of craniosynostosis in individuals with XLH. The objectives of this review are to increase awareness of the prevalence, presentation, and diagnosis of craniosynostosis in XLH; examine the spectrum of craniosynostosis severity in XLH; discuss the management of craniosynostosis in those with XLH; recognize the complications for patients with XLH; and identify what is known about the burden of craniosynostosis for individuals with XLH. The presentation of craniosynostosis in individuals with XLH tends to manifest slightly later than congenital craniosynostosis and can vary in severity and appearance, making diagnosis difficult and resulting in inconsistent clinical outcomes. Consequently, craniosynostosis in patients with XLH is an underreported and potentially underrecognized condition. There have been no studies investigating the effects of craniosynostosis on the quality of life of people with XLH. Despite a growing awareness among researchers and experienced clinicians, there are still improvements to be made in general awareness and timely diagnosis of craniosynostosis in XLH. The XLH community would benefit from further study into the prevalence of craniosynostosis, the effect of XLH medical therapy on the development of craniosynostosis, and the effects of craniosynostosis on quality of life. \u00a9 2023 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\/jbm4.10728","type":"journal-article","created":{"date-parts":[[2023,1,28]],"date-time":"2023-01-28T02:54:46Z","timestamp":1674874486000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Craniosynostosis in Patients With\n                    <scp>X\u2010Linked<\/scp>\n                    Hypophosphatemia: A Review"],"prefix":"10.1093","volume":"7","author":[{"given":"Craig F","family":"Munns","sequence":"first","affiliation":[{"name":"Mayne Academy of Paediatrics University of Queensland  Brisbane Australia"},{"name":"Child Health Research Centre University of Queensland  Brisbane Australia"},{"name":"Department of Endocrinology and Diabetes Queensland Children's Hospital  Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edward P","family":"Maguire","sequence":"additional","affiliation":[{"name":"90TEN  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Williams","sequence":"additional","affiliation":[{"name":"Kyowa Kirin International  Marlow UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sue","family":"Wood","sequence":"additional","affiliation":[{"name":"Kyowa Kirin International  Marlow UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3443-9359","authenticated-orcid":false,"given":"Andrew","family":"Biggin","sequence":"additional","affiliation":[{"name":"Discipline of Child and Adolescent Health University of Sydney  Sydney Australia"},{"name":"Institute of Endocrinology and Diabetes The Children's Hospital at Westmead  Westmead Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,3,14]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/MOP.0000000000000542"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41581-019-0152-5"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.3171\/2015.10.PEDS15273"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-015-2934-9"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1754.1997.tb00997.x"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem-2020-0580"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.EJ15-0275"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-15-0515"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgz203"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-08-0818"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1014-8"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1951.tb16509.x"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.4861.561"},{"issue":"9","key":"e_1_2_9_15_1","first-page":"740","article-title":"Vitamin\u2010D\u2010resistant rickets with craniostenosis","volume":"51","author":"Hugh\u2010Jones K","year":"1958","journal-title":"Proc R Soc Med."},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1984.tb09917.x"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420220305"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1981.55.2.0265"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-007-0503-4"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuchi.2019.09.008"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0b013e31819b9868"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00381-018-04042-7"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1159\/000085158"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2017-2522"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1159\/000334941"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2003-030036"},{"key":"e_1_2_9_27_1","unstructured":"ClinicalTrials.gov.ClinicalTrials.govIdentifier: NCT04184661. 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