{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:05:49Z","timestamp":1756339549698,"version":"3.44.0"},"reference-count":14,"publisher":"BMJ","issue":"12","license":[{"start":{"date-parts":[[2024,12,17]],"date-time":"2024-12-17T00:00:00Z","timestamp":1734393600000},"content-version":"unspecified","delay-in-days":16,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,11,6]]},"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:p>This case report describes the clinical journey of a male patient in early childhood with developmental delay, failure to thrive, worsening right-sided head tilt torticollis and regression of motor skills with spasticity of the lower limbs. The case was complex due to the early onset and gradually worsening symptoms, including a decline in established motor milestones. Genetic testing to investigate the delayed neurodevelopment revealed a <jats:italic>FRA10AC1<\/jats:italic> variant that did not fully explain the patient\u2019s phenotype. Investigations were delayed due to the coronavirus disease 2019 pandemic and other factors related to the patient. Eventually, MRI revealed basilar invagination with cord compression and cord oedema at the C1\u2013C2 junction. Treatment included foramen magnum decompression and management of symptoms using a multidisciplinary approach. Treatment resulted in a remarkable recovery. The patient regained some motor abilities and reached the 50th weight percentile.<\/jats:p>","DOI":"10.1136\/bcr-2024-262625","type":"journal-article","created":{"date-parts":[[2024,12,18]],"date-time":"2024-12-18T10:02:30Z","timestamp":1734516150000},"page":"e262625","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Torticollis as an early manifestation of basilar invagination in a paediatric patient"],"prefix":"10.1136","volume":"17","author":[{"given":"Nehal","family":"Shata","sequence":"first","affiliation":[{"name":"McMaster Children's Hospital\/ Hamilton Health Sciences, Hamilton, Ontario, Canada"},{"name":"Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia"},{"name":"McMaster University, Hamilton, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jumanah","family":"Ali","sequence":"additional","affiliation":[{"name":"McMaster Children's Hospital\/ Hamilton Health Sciences, Hamilton, Ontario, Canada"},{"name":"McMaster University, Hamilton, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nouf","family":"ALNosani","sequence":"additional","affiliation":[{"name":"McMaster Children's Hospital\/ Hamilton Health Sciences, Hamilton, Ontario, Canada"},{"name":"Department of Pediatrics, King Abdulaziz University, Jeddah, Saudi Arabia"},{"name":"McMaster University, Hamilton, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramsay","family":"MacNay","sequence":"additional","affiliation":[{"name":"McMaster Children's Hospital\/ Hamilton Health Sciences, Hamilton, Ontario, Canada"},{"name":"McMaster University, Hamilton, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,12,18]]},"reference":[{"key":"2025082709511189000_17.12.e262625.1","doi-asserted-by":"publisher","DOI":"10.1148\/rg.322105143"},{"key":"2025082709511189000_17.12.e262625.2","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1227\/01.NEU.0000365770.10690.6F","article-title":"Basilar invagination","volume":"66","author":"Smith","year":"2010","journal-title":"Neurosurgery"},{"key":"2025082709511189000_17.12.e262625.3","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/s12891-015-0847-0","article-title":"Basilar impression presenting as intermittent mechanical neck pain: a rare case report","volume":"17","author":"Mourad","year":"2016","journal-title":"BMC Musculoskelet Disord"},{"key":"2025082709511189000_17.12.e262625.4","unstructured":"Donnally CI , Munakomi S , Varacallo M . 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