{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T21:30:44Z","timestamp":1771536644567,"version":"3.50.1"},"reference-count":9,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,3,31]]},"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:p>A male infant born in a tertiary maternity facility was noted to have microretrognathia, a small mouth and macroglossia at delivery. He was born limp and apnoeic and required multiple attempts at intubation before a definitive airway was eventually sited. Chest X-rays, while in the paediatric intensive care unit, demonstrated dysplastic ribs with associated \u2018high-riding\u2019 clavicles. A later X-ray was reported as showing interrupted posterior ribs. A tracheostomy was formed on day of life 9 given the immediate risk to the baby\u2019s airway. Further imaging of the facial bones, skull and brain showed generous CSF spaces over the cerebral convexities and also marked hypoplasia of the mandible and mid-face. The baby\u2019s middle ear cavities were shown to be completely opacified. Genetic testing eventually went on to confirm a diagnosis of cerebrocostomandibular syndrome, with the detection of a pathogenic variant of the small nuclear ribonucleoprotein polypeptide B gene.<\/jats:p>","DOI":"10.1136\/bcr-2023-258108","type":"journal-article","created":{"date-parts":[[2024,5,22]],"date-time":"2024-05-22T23:45:58Z","timestamp":1716421558000},"page":"e258108","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Cerebrocostomandibular syndrome: a diagnostic challenge"],"prefix":"10.1136","volume":"17","author":[{"given":"Alison","family":"Conlon","sequence":"first","affiliation":[{"name":"Department of Neonatology, Children's Health, Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evangelia","family":"Fragkouli","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Rotunda Hospital, Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ailbhe","family":"Tarrant","sequence":"additional","affiliation":[{"name":"Department of Paediatric Radiology, Rotunda Hospital, Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2960-7653","authenticated-orcid":false,"given":"Michael A","family":"Boyle","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Rotunda Hospital, Dublin, Ireland"},{"name":"Department of Paediatrics, Royal College of Surgeons, Dublin, Ireland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,5,22]]},"reference":[{"key":"2025082713024060000_17.5.e258108.1","unstructured":"Nagasawa H . 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