{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T16:30:23Z","timestamp":1726158623971},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5422,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1990,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recently, we examined a small\u2010for\u2010gestational age infant with blepharophimosis, congenital contractures of elbows, hips, and knees, fixed facial expression, and hypotonia. These congenital anomalies are consistent with a diagnosis of the Marden\u2010Walker syndrome. The infant also had an omphalomesenteric duct, left hypoplastic kidney, hypoplastic right lower lobe of the lung, and displacement of the larynx to the right; these anomalies have not been described previously in this syndrome. A summary of the clinical manifestations of the previously reported patients is presented.<\/jats:p>","DOI":"10.1002\/ajmg.1320360425","type":"journal-article","created":{"date-parts":[[2005,9,6]],"date-time":"2005-09-06T13:37:15Z","timestamp":1126013835000},"page":"495-499","source":"Crossref","is-referenced-by-count":10,"title":["Expanded spectrum of findings in Marden\u2010Walker syndrome"],"prefix":"10.1002","volume":"36","author":[{"given":"George P.","family":"Giacoia","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramon","family":"Pineda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1979.02130070071015"},{"key":"e_1_2_1_3_1","first-page":"96","article-title":"Marden\u2010Walker syndrome in a 4 year old girl","volume":"10","author":"Blinnikova OE","year":"1987","journal-title":"Pediatriia"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.1944.tb07327.x"},{"key":"e_1_2_1_5_1","first-page":"232","article-title":"Congenital myopathy with oculofacial and skeletal abnormalities","volume":"23","author":"Ferguson SD","year":"1981","journal-title":"Dev Med Neurol"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.21.12.1214"},{"key":"e_1_2_1_7_1","first-page":"193","volume-title":"Yearbook of Pediatrics","author":"Gellis SS","year":"1963"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260420"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.1.50"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110303"},{"key":"e_1_2_1_11_1","first-page":"63","article-title":"The Marden\u2010Walker syndrome: A case report and review of the literature","volume":"29","author":"Jancar J","year":"1985","journal-title":"J Ment Defic Res"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.15.5.366"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1966.02090120093009"},{"key":"e_1_2_1_14_1","volume-title":"Malformation Syndromes","author":"Passarge E","year":"1975"},{"issue":"2","key":"e_1_2_1_14_2","first-page":"470","article-title":"Excerpta Medica for Johns Hopkins Medical Institutions and the National Foundation\u2014March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1962.00960030056011"},{"key":"e_1_2_1_16_1","series-title":"BD:OAS","first-page":"456","volume-title":"Malformation Syndromes","author":"Simpson JL","year":"1975"},{"key":"e_1_2_1_17_1","series-title":"BD:OAS","first-page":"104","volume-title":"Malformation Syndromes","author":"Temtamy SA","year":"1975"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1159\/000304574"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320360425","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320360425","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T14:23:35Z","timestamp":1697984615000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320360425"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,8]]},"references-count":18,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1990,8]]}},"alternative-id":["10.1002\/ajmg.1320360425"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320360425","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,8]]}}}