{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:46:51Z","timestamp":1790833611142,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5848,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1989,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Here we report on 2 sibs with the Johanson\u2010Blizzard syndrome (JBS). The first child died in the neonatal period, the autopsy showing presence of pancreatic ducts and islets surrounded by connective tissue and a total absence of acini. Morphologic changes suggested dysplasia leading to developmental failure, but early acinar destruction could not be ruled out. The second child had a constellation of abnormalities consistent with JBS, was managed surgically, and is maintained on replacement for his pancreatic enzyme and thyroid hypofunction. At 10 years, he is in a school for the hearing\u2010impaired and is performing appropriately for his age.<\/jats:p>","DOI":"10.1002\/ajmg.1320330212","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:02:45Z","timestamp":1118545365000},"page":"194-199","source":"Crossref","is-referenced-by-count":24,"title":["Johanson\u2010Blizzard syndrome: Clinical and pathological findings in 2 sibs"],"prefix":"10.1002","volume":"33","author":[{"given":"Nevenka S.","family":"Gould","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John B.","family":"Paton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela R.","family":"Bennett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0031-3955(16)32558-5"},{"key":"e_1_2_1_3_1","first-page":"21","article-title":"Le syndrome de Johanson\u2010Blizzard","volume":"37","author":"Bresson JL","year":"1980","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320030203"},{"key":"e_1_2_1_5_1","volume-title":"Johanson\u2010Blizzard syndrome","author":"Day DW","year":"1978"},{"issue":"6","key":"e_1_2_1_5_2","first-page":"275","author":"National Foundation\u2014March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80026-1"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(71)80194-4"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80015-5"},{"key":"e_1_2_1_9_1","first-page":"549","article-title":"Morphometric analysis of liver lesions in cystic diseases of childhood","volume":"11","author":"Landing BH","year":"1980","journal-title":"Hum Pathol [Suppl]"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb02141.x"},{"key":"e_1_2_1_11_1","first-page":"7","volume-title":"The Exocrine Pancreas","author":"McLean JM","year":"1979"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260120"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220107"},{"key":"e_1_2_1_14_1","first-page":"250","volume-title":"The Developing Human","author":"Moore KL","year":"1982"},{"key":"e_1_2_1_15_1","first-page":"57","article-title":"Roentgencephalometric analysis of craniofacial growth in the Johanson\u2010Blizzard syndrome","volume":"1","author":"Motohashi N","year":"1981","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_1_16_1","first-page":"263","article-title":"Ektodermale Dysplasie und exokrine Pancreasinsuffizienz\u2014ein erblich bedingstes","volume":"34","author":"Reichart P","year":"1979","journal-title":"Syndrom Dtsch Zahnarztlz"},{"key":"e_1_2_1_17_1","first-page":"30","volume-title":"The Pancreas","author":"Rutter WJ","year":"1980"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(76)80806-2"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.3109\/15513818609025923"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1981.02130270040014"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320330212","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320330212","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T03:26:57Z","timestamp":1697945217000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320330212"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,6]]},"references-count":20,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1989,6]]}},"alternative-id":["10.1002\/ajmg.1320330212"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320330212","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,6]]}}}