{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T22:17:24Z","timestamp":1784758644627,"version":"3.55.0"},"reference-count":36,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,6,30]]},"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:p>Apert syndrome is a rare acro-cephalo-syndactyly syndrome characterised by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. It demonstrates autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptor gene, as a result of which signals are not received to produce necessary fibrous material necessary for normal cranial sutures. Deformities are generally cosmetic but can affect various functions such as hearing, visual abnormalities, swallowing, writing, etc, so a multidisciplinary approach is needed for their management.<\/jats:p>\n               <jats:p>Presently described is a case of a male in his late adolescence who was medically diagnosed with Apert syndrome at birth. Physical appearance and dental examination of the patient included acrocephaly, prominent forehead, ocular hypertelorism, proptosis, short and broad nose, pseudo-prognathism, dental crowding and ectopia, maxillary hypoplasia, low hairline, webbed neck, pectus excavatum and severe bilateral syndactyly of hands and feet.<\/jats:p>","DOI":"10.1136\/bcr-2024-260724","type":"journal-article","created":{"date-parts":[[2024,7,16]],"date-time":"2024-07-16T22:00:20Z","timestamp":1721167220000},"page":"e260724","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Apert syndrome: craniofacial challenges and clinical implications"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-6863-8501","authenticated-orcid":false,"given":"Niharika","family":"Singh","sequence":"first","affiliation":[{"name":"Conservative Dentistry and Endodontics, King George Medical University, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Promila","family":"Verma","sequence":"additional","affiliation":[{"name":"Conservative Dentistry and Endodontics, King George Medical University, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3925-0125","authenticated-orcid":false,"given":"Rhythm","family":"Bains","sequence":"additional","affiliation":[{"name":"Conservative Dentistry and Endodontics, King George Medical University, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jagruti","family":"Mutalikdesai","sequence":"additional","affiliation":[{"name":"Conservative Dentistry and Endodontics, King George Medical University, Lucknow, Uttar Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,7,16]]},"reference":[{"key":"2025082710150619000_17.7.e260724.1","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1111\/j.1525-1470.2007.00372.x","article-title":"What syndrome is this? Apert syndrome","volume":"24","author":"DeGiovanni","year":"2007","journal-title":"Pediatr Dermatol"},{"key":"2025082710150619000_17.7.e260724.2","doi-asserted-by":"crossref","first-page":"294","DOI":"10.4103\/0973-029X.119782","article-title":"Apert\u2019s syndrome:report of a rare case","volume":"17","author":"Bhatia","year":"2013","journal-title":"J Oral Maxillofac Pathol"},{"key":"2025082710150619000_17.7.e260724.3","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1002\/(SICI)1097-0223(199806)18:6<621::AID-PD307>3.0.CO;2-5","article-title":"Prenatal diagnosis of apert syndrome","volume":"18","author":"Chang","year":"1998","journal-title":"Prenat Diagn"},{"key":"2025082710150619000_17.7.e260724.4","doi-asserted-by":"publisher","DOI":"10.1086\/338758"},{"key":"2025082710150619000_17.7.e260724.5","unstructured":"Goodman RM , Gorlin RJ . Atlas of the Face in Genetic Disorders. St Louis: Mosby Company, 1977:80\u20131."},{"key":"2025082710150619000_17.7.e260724.6","first-page":"923","article-title":"Differential effects of Fgfr2 mutations on syndactyly and cleft palate in apert syndrome","volume":"58","author":"Slaney","year":"1996","journal-title":"Am J Hum Genet"},{"key":"2025082710150619000_17.7.e260724.7","first-page":"115","article-title":"The molecular and cellular basis of apert syndrome","volume":"2","author":"Liu","year":"2013","journal-title":"Intractable Rare Dis Res"},{"key":"2025082710150619000_17.7.e260724.8","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/S1042-3680(18)30719-8","article-title":"Agenesis of the corpus callosum. its associated anomalies and syndromes with special reference to the apert syndrome","volume":"2","author":"Cohen","year":"1991","journal-title":"Neurosurg Clin N Am"},{"key":"2025082710150619000_17.7.e260724.9","first-page":"13","article-title":"Jr Craniosynostosis and syndromes with craniosynostosis: incidence, genetics, penetrance, variability, and new syndrome updating","volume":"15","author":"Cohen","year":"1979","journal-title":"Birth Defects Orig Artic Ser"},{"key":"2025082710150619000_17.7.e260724.10","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1159\/000075135","article-title":"Prenatal diagnosis of apert syndrome","volume":"19","author":"Hansen","year":"2004","journal-title":"Fetal Diagn Ther"},{"key":"2025082710150619000_17.7.e260724.11","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1590\/S1678-77572006000600014","article-title":"Oral findings in patients with apert syndrome","volume":"14","author":"Dalben","year":"2006","journal-title":"J Appl Oral Sci"},{"key":"2025082710150619000_17.7.e260724.12","doi-asserted-by":"crossref","first-page":"1019e","DOI":"10.1097\/PRS.0000000000002741","article-title":"Sleep architecture linked to airway obstruction and intracranial hypertension in children with syndromic 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