{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:43Z","timestamp":1786976803985,"version":"build-2736575974"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,9]],"date-time":"2005-06-09T00:00:00Z","timestamp":1118275200000},"content-version":"vor","delay-in-days":6614,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We describe two infants dying neonatally of respiratory failure despite all attempts at resuscitation. The most striking finding at autopsy was eventration and reduced muscle content of the diaphragm. Microscopic examination of the skeletal muscles, in combination with retrospective evaluation of the family history, disclosed severe X\u2010linked centronuclear myopathy in the first patient and congenital myotonic dystrophy in the second. These disorders are probably more frequent than reported before. Their identification is important, not only for genetic counseling of the involved families but also for providing the neonatologist a sufficient explanation for the failure of resuscitation.<\/jats:p>","DOI":"10.1002\/ajmg.1320270124","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T22:48:11Z","timestamp":1118530091000},"page":"213-218","source":"Crossref","is-referenced-by-count":14,"title":["Congenital eventration of the diaphragm: An unusual cause of intractable neonatal respiratory distress with variable etiology"],"prefix":"10.1002","volume":"27","author":[{"given":"Philippe","family":"Moerman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Pierre","family":"Fryns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hugo","family":"Devlieger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Van Assche","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph","family":"Lauweryns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,9]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(84)80011-8"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(72)80378-0"},{"key":"e_1_2_1_4_1","first-page":"250","article-title":"Respiratory muscle involvement in infantile myotonic dystrophy","volume":"97","author":"Bossen EH","year":"1974","journal-title":"Arch Pathol"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(62)92877-5"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1542\/peds.35.1.3","article-title":"Myotonic dystrophy in infancy and childhood","volume":"35","author":"Dodge PR","year":"1965","journal-title":"Pediatrics"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.23.5.465"},{"key":"e_1_2_1_8_1","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1111\/j.1742-1241.1967.tb07117.x","article-title":"Myotonic dystrophy: Its occurrence in childhood","volume":"21","author":"Gordon N","year":"1967","journal-title":"Br J Clin Pract"},{"key":"e_1_2_1_9_1","first-page":"384","volume-title":"Pathology of the Fetus and the Infant","author":"Potter EL","year":"1976"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-4975(10)65584-1"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.2.5208.1284"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1967.00470260027003"},{"key":"e_1_2_1_13_1","first-page":"180","volume-title":"Perinatal Pathology","author":"Wigglesworth JS","year":"1984"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320270124","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320270124","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T09:17:07Z","timestamp":1697879827000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320270124"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,5]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1987,5]]}},"alternative-id":["10.1002\/ajmg.1320270124"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320270124","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,5]]}}}