{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T08:08:47Z","timestamp":1697616527775},"reference-count":13,"publisher":"Springer Publishing Company","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neonatal Network"],"published-print":{"date-parts":[[2008,1]]},"abstract":"Trisomy 18 is a devastating genetic disorder that can be characterized by multiple congenital anomalies. Some of these anomalies have no medical significance, but merely provide clues to suggest the diagnosis. The most common form of trisomy 18 is the nondisjunction type, which affects every cell of the body with an extra chromosome 18. Affected infants are typically born with a prominent occiput, short eye fissures with droopy eyelids, micrognathia, external ear variations, clenched fist with index finger overlapping the third finger and fifth finger overlapping the fourth, small fingernails and toenails, underdeveloped or altered thumbs, \u201crocker-bottom\u201d feet, and redundant skin at the back of the neck. Congenital heart defects are common. The mortality rate among infants with trisomy 18 is high as a result of cardiac and renal malformations, feeding difficulties, sepsis, and central apnea caused by central nervous system defects. A case study is provided.<\/jats:p>","DOI":"10.1891\/0730-0832.27.1.33","type":"journal-article","created":{"date-parts":[[2011,11,16]],"date-time":"2011-11-16T14:47:31Z","timestamp":1321454851000},"page":"33-41","source":"Crossref","is-referenced-by-count":15,"title":["Trisomy 18: A Case Study"],"prefix":"10.1891","volume":"27","author":[{"given":"Jacquelyn","family":"Shaw","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"793","published-online":{"date-parts":[[2008,1,1]]},"reference":[{"key":"1","unstructured":"Texas Medical Association Board of Councilors. (1999). Death act: Directive to physicians. Retrieved January 6, 2007, from http:\/\/www.texmed.org\/Template.aspx?id=64<\/a>"},{"key":"2","unstructured":"Chen, H. (2006). Trisomy 18. E-medicine.<\/i> Retrieved January 23, 2006, from http:\/\/www.emedicine.com\/ped\/topic652.htm<\/a>"},{"key":"3","unstructured":"Carey, J., Barnes, A., & Showalter, D. (2005). Support Organization for Trisomy (SOFT) 18, 13, and Other Related Disorders: A guide for professionals. Retrieved December 3, 2005, from http:\/\/www.trisomy.org\/info\/<\/a>"},{"key":"4","unstructured":"Fine, B., Greendale, K., Halladay, K., & Carey, J. (2005). Trisomy 18: A book for families.<\/i> SOFT (Support Organization for Trisomy) 18\/13. Unpublished manuscript, Baylor College of Medicine, Department of Cardiovascular Genetics."},{"key":"5","unstructured":"Gardner, R., & Sutherland, G. (2004). Chromosome abnormalities and genetic counseling<\/i> (3rd ed.). Oxford: Oxford University Press."},{"key":"6","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1002\/ajmg.a.31382","article-title":"Congenital malformations among liveborn infants with trisomies 18 and 13.","volume":"140","author":"S. Pont","year":"2006","journal-title":"American Journal of Medical Genetics"},{"key":"7","doi-asserted-by":"crossref","unstructured":"Makrydimas, G., Papanikolaou, E., Paraskevaidis, E., Paschopoulos, M., & Lolis, D. (2003). Upper limb abnormalities as an isolated ultrasonographic finding in early detection of trisomy 18. Acase report. Fetal Diagnosis and Therapy, 18<\/i>, 401\u2013403.","DOI":"10.1159\/000073131"},{"issue":"1\u20132","key":"8","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/S0378-3782(03)00072-0","article-title":"Reasons for trisomy 13 or 18 births despite the availability of prenatal diagnosis and pregnancy termination.","volume":"73","author":"B. Gessner","year":"2003","journal-title":"Early Human Development"},{"issue":"7","key":"9","first-page":"81","article-title":"Acase study in caring: Trisomy 18 syndrome.","volume":"103","author":"B. Glassford","year":"2003","journal-title":"The American Journal of Nursing"},{"issue":"9","key":"10","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1136\/jmg.39.9.e54","article-title":"Survival in trisomy 13 and trisomy 18 cases ascertained from population based registers.","volume":"39","author":"C. Brewer","year":"2002","journal-title":"Journal of Medical Genetics"},{"key":"11","unstructured":"American Medical Association. (1992). Treatment decisions for seriously ill newborns. Retrieved December 3, 2005, from http:\/\/www.ama-assn.org\/ama\/pub\/category\/8460.html<\/a>"},{"key":"12","unstructured":"UNIQUE\u2013 Rare Chromosome Disorder Support Group. (2005). The little yellow book: A guide to rare chromosome disorders.<\/i> Unpublished manuscript, provided by Baylor College of Medicine, Department of Cardiovascular Genetics."},{"key":"13","unstructured":"Armentrout, D. (2005). Holding a place: A grounded theory of parents bringing their infant forward in their daily lives following the removal of life support and subsequent infant death.<\/i> Unpublished doctoral dissertation, University of Texas Medical Branch, Galveston."}],"container-title":["Neonatal Network"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1891\/0730-0832.27.1.33","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,18]],"date-time":"2019-09-18T17:55:27Z","timestamp":1568829327000},"score":1,"resource":{"primary":{"URL":"http:\/\/connect.springerpub.com\/lookup\/doi\/10.1891\/0730-0832.27.1.33"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1]]},"references-count":13,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2008,1,1]]},"published-print":{"date-parts":[[2008,1]]}},"alternative-id":["10.1891\/0730-0832.27.1.33"],"URL":"https:\/\/doi.org\/10.1891\/0730-0832.27.1.33","relation":{},"ISSN":["0730-0832","1539-2880"],"issn-type":[{"value":"0730-0832","type":"print"},{"value":"1539-2880","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,1]]}}}