{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T04:51:25Z","timestamp":1697691085056},"reference-count":10,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2009,7,15]],"date-time":"2009-07-15T00:00:00Z","timestamp":1247616000000},"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":[[2009,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We detailed the story from birth to the age of 5 years 9 months, of the oldest patient reported with a Bohring\u2010Opitz syndrome with the three main diagnostic criteria: characteristic facial appearance, fixed contractures of the upper limbs and severe feeding difficulties. The facial anomalies described in our patient were microcephaly, bitemporal narrowing, \u201cpuffy\u201d cheeks, forehead naevus flammeus, hypoplastic orbital ridges, prominent eyes, broad nasal bridge, high arched palate, buccal\u2010alveola frenula and retrognathism. The magnetic resonance imaging (MRI) of the brain showed a hypoplastic corpus callosum and a narrowed upper cervical canal; and the cervical MRI showed a malformation of the atlas consisting in an agenesis of the anterior arch and an anterior slip of the posterior arch. We focused on her neurological and nutritional evolution. Despite the gastrostomy and a Nissen fundoplication at age 7 months, she still had developmental growth delays overall (&lt;3rd centile). At 3 years 9 months of age, she began to put on weight quickly, which seemed to be atypical. Meanwhile she developed epilepsy, which was controlled with specific drugs. Currently, she is 5 years 9 months old and has significant psychomotor retardation, although this disease is often fatal in early childhood, due to obstructive apnea and unexplained bradycardia. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32910","type":"journal-article","created":{"date-parts":[[2009,7,17]],"date-time":"2009-07-17T16:23:13Z","timestamp":1247847793000},"page":"1754-1757","source":"Crossref","is-referenced-by-count":4,"title":["Evolution of a patient with Bohring\u2013Opitz syndrome"],"prefix":"10.1002","volume":"149A","author":[{"given":"Sophie","family":"Pierron","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Richelme","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Triolo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean Christophe","family":"Mas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacques","family":"Griffet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Houda","family":"Karmous\u2010Benailly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Quere","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadashi","family":"Kaname","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean\u2010Claude","family":"Lambert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabienne","family":"Giuliano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,7,15]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"113","article-title":"C trigonocephaly syndrome with diaphragmatic hernia","volume":"6","author":"Addor MC","year":"1995","journal-title":"Genet Counsel"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990827)85:5<438::AID-AJMG2>3.0.CO;2-A"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31265"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000619)92:5<366::AID-AJMG15>3.0.CO;2-U"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/522014"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000619)92:5<363::AID-AJMG14>3.0.CO;2-5"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000619)92:5<361::AID-AJMG13>3.0.CO;2-E"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1975.02120480062016"},{"key":"e_1_2_4_10_1","first-page":"161","article-title":"The C syndrome of multiple congenital anomalies","volume":"2","author":"Opitz JM","year":"1969","journal-title":"Birth Defects Orig Art Ser"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/15513810601015753"}],"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.32910","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32910","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T04:23:39Z","timestamp":1697603019000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32910"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,7,15]]},"references-count":10,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2009,8]]}},"alternative-id":["10.1002\/ajmg.a.32910"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32910","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,7,15]]}}}