{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,25]],"date-time":"2026-03-25T13:12:24Z","timestamp":1774444344344,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,3,17]],"date-time":"2016-03-17T00:00:00Z","timestamp":1458172800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Johanson\u2013Blizzard syndrome (JBS) is considered as an infrequent, but clinically easily recognizable autosomal recessive entity by the pathognomonic combination of congenital exocrine pancreatic insufficiency and hypoplastic alae nasi, in addition to other distinctive findings such as scalp defects, hypothyroidism, and rectourogenital malformations. There are few reports of patients with JBS in association with facial clefting, referring all to types 2 to 6 of Tessier's classification that can be characterized properly as oblique facial clefts (OFCs). We describe the clinical aspects in four patients with JBS and extensive OFCs. In all of them, the diagnosis of JBS was confirmed by the demonstration of homozygous or compound\u2010heterozygous mutations in the<jats:italic>UBR1<\/jats:italic>gene. Additionally, we review three previously reported cases of JBS with OFCs. Taking into account a number of approximately 100 individuals affected by JBS that have been published in the literature we estimate that the frequency of OFCs in JBS is between 5% and 10%. This report emphasizes that extensive OFCs may be the severe end of the spectrum of facial malformations occurring in JBS. No obvious genotype phenotype correlation could be identified within this cohort. Thus,<jats:italic>UBR1<\/jats:italic>should be included within the list of contributory genes of OFCs, although the exact mechanism remains unknown. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37630","type":"journal-article","created":{"date-parts":[[2016,3,19]],"date-time":"2016-03-19T07:11:46Z","timestamp":1458371506000},"page":"1495-1501","source":"Crossref","is-referenced-by-count":4,"title":["Oblique facial clefts in Johanson\u2013Blizzard syndrome"],"prefix":"10.1002","volume":"170","author":[{"given":"Jorge Rom\u00e1n","family":"Corona\u2010Rivera","sequence":"first","affiliation":[{"name":"Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division Dr. Juan I. Menchaca Civil Hospital of Guadalajara Guadalajara Jalisco M\u00e9xico"},{"name":"Department of Molecular Biology and Genomics, Dr. Enrique Corona Rivera Institute of Human Genetics, Health Sciences University Centre University of Guadalajara Guadalajara Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eugenio","family":"Zapata\u2010Aldana","sequence":"additional","affiliation":[{"name":"Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division Dr. Juan I. Menchaca Civil Hospital of Guadalajara Guadalajara Jalisco M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucina","family":"Bobadilla\u2010Morales","sequence":"additional","affiliation":[{"name":"Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division Dr. Juan I. Menchaca Civil Hospital of Guadalajara Guadalajara Jalisco M\u00e9xico"},{"name":"Department of Molecular Biology and Genomics, Dr. Enrique Corona Rivera Institute of Human Genetics, Health Sciences University Centre University of Guadalajara Guadalajara Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alfredo","family":"Corona\u2010Rivera","sequence":"additional","affiliation":[{"name":"Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division Dr. Juan I. Menchaca Civil Hospital of Guadalajara Guadalajara Jalisco M\u00e9xico"},{"name":"Department of Molecular Biology and Genomics, Dr. Enrique Corona Rivera Institute of Human Genetics, Health Sciences University Centre University of Guadalajara Guadalajara Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Pe\u00f1a\u2010Padilla","sequence":"additional","affiliation":[{"name":"Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division Dr. Juan I. Menchaca Civil Hospital of Guadalajara Guadalajara Jalisco M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth","family":"Solis\u2010Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics and Cytogenetic Unit, Pediatric Division Dr. Juan I. Menchaca Civil Hospital of Guadalajara Guadalajara Jalisco M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Celina","family":"Guzm\u00e1n","sequence":"additional","affiliation":[{"name":"Service of Pediatrics Gastroenterology Hospital La Cat\u00f3lica San Jos\u00e9 Costa Rica"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erick","family":"Richmond","sequence":"additional","affiliation":[{"name":"Service of Endocrinology National Childre\u0144s Hospital San Jos\u00e9 Costa Rica"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Zahl","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillo\u2010Facial Surgery University Hospital Magdeburg Magdeburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Zenker","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital Magdeburg Magdeburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maja","family":"Sukalo","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital Magdeburg Magdeburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,3,17]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32401"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2009.05.005"},{"key":"e_1_2_5_4_1","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1038\/nature10688","article-title":"FBXO11 targets BCL6 for degradation and is inactivated in diffuse large B\u2010cell lymphomas","volume":"2012","author":"Duan S","year":"2012","journal-title":"Nature"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-197604000-00012"},{"key":"e_1_2_5_6_1","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780195118612.001.0001","volume-title":"Syndromes of the head and neck","author":"Gorlin RJ","year":"2001"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-199709000-00020"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl403"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0000000000001048"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(71)80194-4"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)83286-X"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.14.7898"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.21.23.8007-8021.2001"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0749.2001.140608.x"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-010-1240-5"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530305"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22538"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-0503(76)80013-6"},{"key":"e_1_2_5_19_1","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1177\/229255030401200204","article-title":"Johanson\u2010Blizzard syndrome: A challenge in nasal reconstruction","volume":"12","author":"Timoney N","year":"2004","journal-title":"Can J Plast Surg"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-198508000-00007"},{"key":"e_1_2_5_21_1","first-page":"27","volume-title":"Craniofacial malformations","author":"Vermeij\u2010Keers C","year":"1990"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1681"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ecl.2006.02.013"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37630","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37630","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,15]],"date-time":"2024-06-15T04:12:12Z","timestamp":1718424732000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37630"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,3,17]]},"references-count":22,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2016,6]]}},"alternative-id":["10.1002\/ajmg.a.37630"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37630","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,3,17]]}}}