{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:25:43Z","timestamp":1761708343687},"reference-count":9,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1989,1]]},"abstract":"<jats:p content-type=\"fine-print\">\u2713 Homozygous achondroplasia is a rare yet distinct clinical entity. Most infants succumb to an early death as a result of respiratory compromise due to upper airway obstruction, thoracic cage deformity, and\/or cervicomedullary compression. The successful cervicomedullary decompression of a 16-week-old infant with homozygous achondroplasia is described. This report suggests that homozygous achondroplasia is not universally fatal and that these infants are potentially viable if managed by aggressive respiratory and surgical measures.<\/jats:p>","DOI":"10.3171\/jns.1989.70.1.0126","type":"journal-article","created":{"date-parts":[[2009,5,8]],"date-time":"2009-05-08T16:21:50Z","timestamp":1241799710000},"page":"126-128","source":"Crossref","is-referenced-by-count":25,"title":["Foramen magnum decompression in an infant with homozygous achondroplasia"],"prefix":"10.3171","volume":"70","author":[{"given":"Nathan","family":"Moskowitz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Benjamin","family":"Carson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven","family":"Kopits","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roy","family":"Levitt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Graeme","family":"Hart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"key":"b1","series-title":"J Pediatr","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1016\/S0022-3476(84)81103-8","article-title":"Apnea as the sole manifestation of cord compression in achondroplasia.","volume":"104","author":"Fremion","year":"1984"},{"key":"b2","series-title":"Birth Defects","first-page":"24","article-title":"Two probable cases of homozygosity for the achondroplasia gene.","volume":"V","author":"Hall","year":"1969"},{"key":"b3","series-title":"Australas Radiol","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1111\/j.1440-1673.1977.tb03189.x","article-title":"Neonatal death dwarfism.","volume":"21","author":"Kozlowski","year":"1977"},{"key":"b4","series-title":"Ann Hum Genet","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1111\/j.1469-1809.1970.tb01648.x","article-title":"Achondroplasia \u2014 a genetic and statistical survey.","volume":"33","author":"Murdoch","year":"1970"},{"key":"b5","series-title":"J Med Genet","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1136\/jmg.16.2.140","article-title":"Achondroplasia and hypochondroplasia. Comments on frequency, mutation rate, and radiological features in skull and spine.","volume":"16","author":"Oberklaid","year":"1979"},{"key":"b6","series-title":"Am J Med Genet","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1002\/ajmg.1320160404","article-title":"Homozygous achondroplasia with survival beyond infancy.","volume":"16","author":"Pauli","year":"1983"},{"key":"b7","series-title":"J Pediatr","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1016\/S0022-3476(84)81092-6","article-title":"Apnea and sudden unexpected death in infants with achondroplasia.","volume":"104","author":"Pauli","year":"1984"},{"key":"b8","series-title":"J Pediatr","doi-asserted-by":"publisher","first-page":"534","DOI":"10.1016\/S0022-3476(83)80180-2","article-title":"Respiratory complications of achondroplasia.","volume":"102","author":"Stokes","year":"1983"},{"key":"b9","series-title":"J Neurosurg","doi-asserted-by":"publisher","first-page":"49","DOI":"10.3171\/jns.1981.54.1.0049","article-title":"Neurological manifestations of pediatric achondroplasia.","volume":"54","author":"Yamada","year":"1981"}],"container-title":["Journal of Neurosurgery"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg\/70\/1\/article-p126.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg\/70\/1\/article-p126.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg\/70\/1\/article-p126.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,3,27]],"date-time":"2023-03-27T00:25:16Z","timestamp":1679876716000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg\/70\/1\/article-p126.xml"}},"subtitle":["Case report"],"short-title":[],"issued":{"date-parts":[[1989,1]]},"references-count":9,"journal-issue":{"issue":"1"},"URL":"https:\/\/doi.org\/10.3171\/jns.1989.70.1.0126","relation":{},"ISSN":["0022-3085"],"issn-type":[{"value":"0022-3085","type":"print"}],"subject":[],"published":{"date-parts":[[1989,1]]}}}