{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:09Z","timestamp":1761717969077},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4371,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This report suggests the association of congenital diaphragmatic hernia in Simpson\u2010Golabi\u2010Behmel syndrome by describing two unrelated males with this malformation. One male was the maternal half\u2010nephew of our previously reported 8\u2010year\u2010old boy with this syndrome.<\/jats:p><jats:p>Review of the skeletal roentgenograms of these 2 affected males, and those of the previously reported 8\u2010year\u2010old, documents flare of the iliac wings, narrow sacroiliac notches, and the presence of two carpal ossification centers as a newborn (\u201cadvanced bone age\u201d).<\/jats:p><jats:p>We also report the follow\u2010up of the 8\u2010year\u2010old boy, now 16 years old, who continues to have significant overgrowth and speech, dental, developmental, and adjustment problems. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320460523","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:59:31Z","timestamp":1118509171000},"page":"574-578","source":"Crossref","is-referenced-by-count":44,"title":["Simpson\u2010Golabi\u2010Behmel syndrome: Congenital diaphragmatic hernia and radiologic findings in two patients and follow\u2010up of a previously reported case"],"prefix":"10.1002","volume":"46","author":[{"given":"Emily","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John P.","family":"Johnson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victoria A.","family":"Cox","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahin","family":"Golabi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320120"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291401"},{"key":"e_1_2_1_4_1","unstructured":"BergoffenJ McDonald\u2010McGinnDM RuchelliE RossAJ PunnettH KirkJJ CampbellTJ MillerRC RichkindKE ZackaiEH(1992):Diaphragmatic hernia: etiologic clue to tetrasomy 12p mosaicism presenting feature in a series of patients with Pallister\u2010Killian syndrome (tetrasomy 12p mosaicism). Abstract A5. 24th March of Dimes Clinical Genetics Conference on Clinical and Molecular Cytogenetics of Developmental Disorders Stanford University."},{"issue":"4","key":"e_1_2_1_5_1","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1542\/peds.85.4.499","article-title":"Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia","volume":"85","author":"Cuniff C","year":"1990","journal-title":"Pediatrics"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295591"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170128"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440203"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430165"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380215"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300130"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170129"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300131"},{"issue":"2","key":"e_1_2_1_14_1","first-page":"18","article-title":"A previously unrecognized X\u2010linked syndrome of dysmorphia","author":"Simpson JL","year":"1975","journal-title":"BD:OAS"},{"issue":"2","key":"e_1_2_1_15_1","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1016\/S0033-8389(22)02807-X","article-title":"Small acetabular and iliac angles and associated diseases","author":"Taybi H","year":"1968","journal-title":"Radiol Clin North Am"},{"key":"e_1_2_1_16_1","first-page":"878","volume-title":"Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias","author":"Taybi H","year":"1990"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb00466.x"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320460523","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320460523","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T01:48:15Z","timestamp":1698284895000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320460523"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,6,15]]},"references-count":16,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1993,6,15]]}},"alternative-id":["10.1002\/ajmg.1320460523"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320460523","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,6,15]]}}}