{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T02:03:33Z","timestamp":1783389813244,"version":"3.54.6"},"reference-count":10,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,4,9]]},"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:p>Heimler Syndrome 2 (HS-2) is a rare, autosomal recessive mild form of a peroxisomal biogenesis disorder. Though knowledge regarding the disorder is limited, emerging research has found that sensorineural hearing loss, occasional or late onset pigmentation, amelogenesis imperfecta and nail abnormalities are clinical characteristics representative of HS-2.<\/jats:p>\n               <jats:p>A school-aged male presented to the dental department with a chief complaint of a lack of enamel on multiple teeth. The patient\u2019s medical history was significant for patent ductus arteriosus, bilateral sensorineural hearing loss and biallelic mutation of the PEX6 gene. The clinical exam revealed dental crowding, hypoplasia, hypo-calcification of multiple teeth and enlarged pulp chambers of maxillary molars. This case report details the clinical findings associated with HS-2, the comprehensive dental treatment to be rendered to the patient, and critical information to paediatric dentists and general dentists so that they can make proper referrals to medical specialties.<\/jats:p>","DOI":"10.1136\/bcr-2023-257354","type":"journal-article","created":{"date-parts":[[2024,4,25]],"date-time":"2024-04-25T02:35:14Z","timestamp":1714012514000},"page":"e257354","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":2,"title":["Management of oral manifestations of a child with Heimler Syndrome-2"],"prefix":"10.1136","volume":"17","author":[{"given":"Lauren C","family":"Yap","sequence":"first","affiliation":[{"name":"Pediatric Dentistry, Geisinger Medical Center, Danville, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lacey","family":"Williams","sequence":"additional","affiliation":[{"name":"Pediatric Dentistry, Geisinger Medical Center, Danville, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Stinton","sequence":"additional","affiliation":[{"name":"Pediatric Dentistry, Geisinger Medical Center, Danville, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gayatri","family":"Malik","sequence":"additional","affiliation":[{"name":"Pediatric Dentistry, Geisinger Medical Center, Danville, Pennsylvania, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2024,4,24]]},"reference":[{"key":"2025082802274772000_17.4.e257354.1","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-019-1243-x","article-title":"Expanding the clinical and genetic spectrum of Heimler syndrome","volume":"14","author":"Gao","year":"2019","journal-title":"Orphanet J Rare Dis"},{"key":"2025082802274772000_17.4.e257354.2","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/j.adaj.2018.03.021","article-title":"Secondary Sj\u00f6gren syndrome","volume":"149","author":"Young","year":"2018","journal-title":"The Journal of the American Dental Association"},{"key":"2025082802274772000_17.4.e257354.3","first-page":"101","article-title":"The treatment of Localised Hypoplastic and Hypomineralised defects in first permanent molars","volume":"97","author":"Mahoney","year":"2001","journal-title":"N Z Dent J"},{"key":"2025082802274772000_17.4.e257354.4","doi-asserted-by":"crossref","DOI":"10.3390\/children7080091","article-title":"Molar Incisor Hypomineralisation\u2014to extract or to restore beyond the optimal age","volume":"7","author":"Elhussein","year":"2020","journal-title":"Children"},{"key":"2025082802274772000_17.4.e257354.5","unstructured":"Peroxisome biology: experimental models, Peroxisomal disorders and neurological diseases. Springer International Publishing, Germany; 2021."},{"key":"2025082802274772000_17.4.e257354.6","first-page":"437","article-title":"Main genetic entities associated with supernumerary teeth","volume":"116","author":"Cammarata-Scalisi","year":"2018","journal-title":"Arch Argent Pediatr"},{"key":"2025082802274772000_17.4.e257354.7","first-page":"32","article-title":"Development of a silver diamine fluoride protocol in safety net dental settings","volume":"86","author":"Burgette","year":"2019","journal-title":"J Dent Child"},{"key":"2025082802274772000_17.4.e257354.8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390214"},{"key":"2025082802274772000_17.4.e257354.9","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.ejmg.2005.07.003","article-title":"Sensorineural deafness, enamel abnormalities, and nail abnormalities: A case report of Heimler syndrome in identical twin girls","volume":"49","author":"Ong","year":"2006","journal-title":"Eur J Med Genet"},{"key":"2025082802274772000_17.4.e257354.10","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1002\/ajmg.c.31823","article-title":"The Peroxisomal disorder spectrum and Heimler syndrome: deep Phenotyping and review of the literature","volume":"184","author":"Daich Varela","year":"2020","journal-title":"Am J Med Genet C Semin Med Genet"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-257354","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T09:27:57Z","timestamp":1756373277000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-257354"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4]]},"references-count":10,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2024,4,24]]},"published-print":{"date-parts":[[2024,4]]}},"alternative-id":["10.1136\/bcr-2023-257354"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-257354","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4]]}}}