{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T12:57:00Z","timestamp":1781614620384,"version":"3.54.5"},"reference-count":5,"publisher":"BMJ","issue":"6","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,6,3]]},"published-print":{"date-parts":[[2026,6]]},"abstract":"<jats:p>\n                    Craniometaphyseal dysplasia is a rare sclerosing bone disorder that may be difficult to recognise in early childhood. We report a patient initially evaluated in the toddler period for macrocephaly and craniofacial dysmorphism, in whom early neuroimaging was unremarkable, supporting the diagnosis of macrocephaly of infancy. During early childhood, following head trauma, incidental radiological findings revealed progressive cranial sclerosis. Persistent macrocephaly and craniofacial features prompted further investigation, leading to the diagnosis of craniometaphyseal dysplasia, confirmed by identification of a pathogenic\n                    <jats:italic>ANKH<\/jats:italic>\n                    variant. The patient was subsequently enrolled in long-term multidisciplinary follow-up. Into early adulthood, cranial features remained, metabolic parameters remained stable, sensorineural hearing loss did not progress and no neurological or visual complications developed. This case illustrates how the condition may remain unrecognised when early imaging appears reassuring and highlights the importance of revisiting diagnostic impressions when clinical features persist or evolve. Early recognition and coordinated follow-up may help prevent irreversible complications and support favourable long-term outcomes.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2026-272333","type":"journal-article","created":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T12:15:11Z","timestamp":1781612111000},"page":"e272333","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Craniometaphyseal dysplasia: a rare cause of persistent macrocephaly"],"prefix":"10.1136","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-6138-6933","authenticated-orcid":false,"given":"Maria","family":"Parente Rodrigues","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Centro Hospitalar Universit\u00e1rio do Porto EPE Centro Materno-Infantil do Norte Dr Albino Aroso, Porto, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Em\u00edlia","family":"Costa","sequence":"additional","affiliation":[{"name":"Paediatric Hematology Unit, Department of Pediatrics, Centro Hospitalar Universit\u00e1rio do Porto EPE Centro Materno-Infantil do Norte Dr Albino Aroso, Porto, Porto District, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joaquim","family":"Cunha","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Unidade Local de Sa\u00fade do T\u00e2mega e Sousa, Penafiel, Porto District, Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,6,16]]},"reference":[{"key":"2026061605150573000_19.6.e272333.1","unstructured":"Reichenberger E , Chen IP . Autosomal dominant craniometaphyseal dysplasia. Seattle (WA): University of Washington,"},{"key":"2026061605150573000_19.6.e272333.2","unstructured":"Chen IP , Wang L , Jiang X , et al . ANKH mutations in craniometaphyseal dysplasia. Human Molecular Genetics (Hum Mol Genet) 2011."},{"key":"2026061605150573000_19.6.e272333.3","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00976.x"},{"key":"2026061605150573000_19.6.e272333.4","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/j.radcr.2016.04.006","article-title":"Craniometaphyseal dysplasia in a 14-month old: a case report and review of imaging differential diagnosis","volume":"11","author":"Singh","year":"2016","journal-title":"Radiol Case Rep"},{"key":"2026061605150573000_19.6.e272333.5","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1007\/s44162-023-00009-8","article-title":"Three-dimensional radiographic features of craniometaphyseal dysplasia\u2014a comparative CBCT study","volume":"2","author":"Muttanahally","year":"2023","journal-title":"J Rare Dis"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2026-272333","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T12:15:17Z","timestamp":1781612117000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2026-272333"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6]]},"references-count":5,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2026,6,16]]},"published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1136\/bcr-2026-272333"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2026-272333","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6]]}}}