{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,10]],"date-time":"2024-02-10T00:45:02Z","timestamp":1707525902564},"reference-count":20,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,2,5]]},"DOI":"10.7759\/cureus.53613","type":"journal-article","created":{"date-parts":[[2024,2,5]],"date-time":"2024-02-05T13:53:21Z","timestamp":1707141201000},"source":"Crossref","is-referenced-by-count":0,"title":["Traumatic Self-Inflicted Ventricular Laceration: A Case of Smith-Lemli-Opitz Syndrome in an Adult"],"prefix":"10.7759","author":[{"given":"Jennifer J","family":"Beuschel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grace I","family":"Ng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna C","family":"Abaraoha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert J","family":"Fortuna","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2004-1262","article-title":"Transition planning for youth with special health care needs: results from the National Survey of Children with Special Health Care Needs","volume":"115","author":"Lotstein DS","year":"2005","unstructured":"Lotstein DS, McPherson M, Strickland B, Newacheck PW. Transition planning for youth with special health care needs: results from the National Survey of Children with Special Health Care Needs. Pediatrics. 2005, 115:1562-8. 10.1542\/peds.2004-1262","journal-title":"Pediatrics"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedn.2014.09.015","article-title":"Healthcare system supports for young adult patients with pediatric onset chronic conditions: a qualitative study","volume":"30","author":"Szalda DE","year":"2015","unstructured":"Szalda DE, Jimenez ME, Long JE, Ni A, Shea JA, Jan S. Healthcare system supports for young adult patients with pediatric onset chronic conditions: a qualitative study. J Pediatr Nurs. 2015, 30:126-32. 10.1016\/j.pedn.2014.09.015","journal-title":"J Pediatr Nurs"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(64)80264-x","article-title":"A newly recognized syndrome of multiple congenital anomalies","volume":"64","author":"Smith DW","year":"1964","unstructured":"Smith DW, Lemli L, and Opitz JM. A newly recognized syndrome of multiple congenital anomalies. J Pediatr. 1964, 64:210-7. 10.1016\/s0022-3476(64)80264-x","journal-title":"J Pediatr"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.10","article-title":"Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management","volume":"16","author":"Porter FD","year":"2008","unstructured":"Porter FD. Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet. 2008, 16:535-41. 10.1038\/ejhg.2008.10","journal-title":"Eur J Hum Genet"},{"key":"ref5","article-title":"Smith-Lemli-Opitz Syndrome","author":"Nowaczyk MJM","year":"1998","unstructured":"Nowaczyk MJM, Wassif CA. Smith-Lemli-Opitz Syndrome.   In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. University of Washington, Seattle; 1998 [updated 2020]."},{"key":"ref6","unstructured":"Smith-Lemli-Opitz syndrome. (2023). Accessed. 11\/28\/2023: https:\/\/en.wikipedia.org\/wiki\/Smith%E2%80%93Lemli%E2%80%93Opitz_syndrome."},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31342","article-title":"Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome","volume":"160C","author":"Diaz-Stransky A","year":"2012","unstructured":"Diaz-Stransky A, Tierney E. Cognitive and behavioral aspects of Smith-Lemli-Opitz syndrome. Am J Med Genet C Semin Med Genet. 2012, 160C:295-300. 10.1002\/ajmg.c.31342","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02365-y","article-title":"Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)","volume":"17","author":"Schuermans N","year":"2022","unstructured":"Schuermans N, Hemelsoet D, Terryn W, et al.. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA). Orphanet J Rare Dis. 2022, 17:210. 10.1186\/s13023-022-02365-y","journal-title":"Orphanet J Rare Dis"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2014-1839","article-title":"Comprehensive evaluation of the child with intellectual disability or global developmental delays","volume":"134","author":"Moeschler JB","year":"2014","unstructured":"Moeschler JB, Shevell M. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics. 2014, 134:e903-18. 10.1542\/peds.2014-1839","journal-title":"Pediatrics"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62372","article-title":"Temporal trends and yield of clinical diagnostic genetic testing in adult neurology","volume":"185","author":"Guo MH","year":"2021","unstructured":"Guo MH, Bardakjian TM, Brzozowski MR, et al.. Temporal trends and yield of clinical diagnostic genetic testing in adult neurology. Am J Med Genet A. 2021, 185:2922-8. 10.1002\/ajmg.a.62372","journal-title":"Am J Med Genet A"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1503\/cmaj.210549","article-title":"Genome sequencing as a diagnostic test","volume":"193","author":"Costain G","year":"2021","unstructured":"Costain G, Cohn RD, Scherer SW, Marshall CR. Genome sequencing as a diagnostic test. CMAJ. 2021, 193:E1626-9. 10.1503\/cmaj.210549","journal-title":"CMAJ"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.15141219","article-title":"Clinical genetic screening in adult patients with kidney disease","volume":"15","author":"Cocchi E","year":"2020","unstructured":"Cocchi E, Nestor JG, Gharavi AG. Clinical genetic screening in adult patients with kidney disease. Clin J Am Soc Nephrol. 2020, 15:1497-510. 10.2215\/CJN.15141219","journal-title":"Clin J Am Soc Nephrol"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1017\/cjn.2022.49","article-title":"Usage of genetic panels in an adult epilepsy clinic","volume":"50","author":"Li J","year":"2023","unstructured":"Li J, Toffa DH, Lef\u00e8bvre M, T\u00e9treault M, Cossette P, Samarut \u00c9, Nguyen DK. Usage of genetic panels in an adult epilepsy clinic. Can J Neurol Sci. 2023, 50:411-7. 10.1017\/cjn.2022.49","journal-title":"Can J Neurol Sci"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0203-6","article-title":"Whole-exome sequencing in intellectual disability; cost before and after a diagnosis","volume":"26","author":"Vrijenhoek T","year":"2018","unstructured":"Vrijenhoek T, Middelburg EM, Monroe GR, et al.. Whole-exome sequencing in intellectual disability; cost before and after a diagnosis. Eur J Hum Genet. 2018, 26:1566-71. 10.1038\/s41431-018-0203-6","journal-title":"Eur J Hum Genet"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.122","article-title":"Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome\/genome sequencing","volume":"17","author":"Xue Y","year":"2015","unstructured":"Xue Y, Ankala A, Wilcox WR, Hegde MR. Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome\/genome sequencing. Genet Med. 2015, 17:444-51. 10.1038\/gim.2014.122","journal-title":"Genet Med"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.07.003","article-title":"Use of eConsult to enhance genetics service delivery in primary care: A multimethod study","volume":"24","author":"Carroll JC","year":"2022","unstructured":"Carroll JC, Liddy C, Afkham A, et al.. Use of eConsult to enhance genetics service delivery in primary care: A multimethod study. Genet Med. 2022, 24:2034-41. 10.1016\/j.gim.2022.07.003","journal-title":"Genet Med"},{"key":"ref17","article-title":"Improving the quality of primary care for adults with intellectual and developmental disabilities: Value of the periodic health examination","volume":"65","author":"Durbin J","year":"2019","unstructured":"Durbin J, Selick A, Casson I, Green L, Perry A, Chacra M, Lunsky Y. Improving the quality of primary care for adults with intellectual and developmental disabilities: Value of the periodic health examination. Can Fam Physician. 2019, 65:1.","journal-title":"Can Fam Physician"},{"key":"ref18","unstructured":"Disabled peoples' international (DPI). Homepage. (2022). Accessed: November 28, 2023: https:\/\/disabledpeoplesinternational.org."},{"key":"ref19","unstructured":"Office for People With Developmental Disabilities. Homepage. (2023). Accessed: November 28, 2023: https:\/\/opwdd.ny.gov."},{"key":"ref20","unstructured":"Smith-Lemli-Opitz Foundation. Homepage. (2022). Accessed: November 28, 2023: http:\/\/www.smithlemliopitz.org."}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/212714-traumatic-self-inflicted-ventricular-laceration-a-case-of-smith-lemli-opitz-syndrome-in-an-adult","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T20:17:31Z","timestamp":1707509851000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/212714-traumatic-self-inflicted-ventricular-laceration-a-case-of-smith-lemli-opitz-syndrome-in-an-adult"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,5]]},"references-count":20,"URL":"https:\/\/doi.org\/10.7759\/cureus.53613","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,2,5]]}}}