{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T12:10:26Z","timestamp":1777032626243,"version":"3.51.4"},"reference-count":31,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2022,12,7]]},"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:p>We report a short-statured, young man in his 20s presenting with bilateral cataract, recurrent kidney stones, history of refractory rickets and bone deformity. He had been consuming calcium and vitamin D supplements and had been operated for cataract and renal stone disease, prior to reporting in our clinic without any significant laboratory or clinical improvement. The patient was diagnosed as having Fanconi\u2019s syndrome attributable to Wilson\u2019s disease. This patient highlights that in case of resistant rickets, a high index of suspicion must be invoked for Wilson\u2019s disease. Timely recognition of this entity results in prompt ministrations and prevention of disability.<\/jats:p>","DOI":"10.1136\/bcr-2022-252290","type":"journal-article","created":{"date-parts":[[2023,7,25]],"date-time":"2023-07-25T12:58:39Z","timestamp":1690289919000},"page":"e252290","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":5,"title":["Metabolic bone disease heralding the diagnosis of Wilson\u2019s disease"],"prefix":"10.1136","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0410-8778","authenticated-orcid":false,"given":"Sanjay","family":"Bhadada","sequence":"first","affiliation":[{"name":"Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bhanu","family":"Malhotra","sequence":"additional","affiliation":[{"name":"Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, 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