{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T18:45:57Z","timestamp":1700160357132},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2004,6,21]],"date-time":"2004-06-21T00:00:00Z","timestamp":1087776000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Genethon Association"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two sibs, a boy and a girl, from a Lebanese consanguineous family presented with short stature, microcephaly, ptosis, small, dysplastic, low set ears, short neck, and pectum excavatum and carinatum. In addition, the boy had a high arched palate, a cardiac malformation, and at the X\u2010rays an absence of fusion of the posterior hemi\u2010arches of C7 and a fusion between L5 and S1 with a sagittal\u2010cleft vertebral body of L5, while his sister had a cleft lip\/palate and at the X\u2010rays an abnormal odontoid peg and a malformation of the articular facets between C1 and C2, and bilateral cervical ribs. Other laboratory and radiological investigations were normal. Sequencing of PTPN11 exons 2, 3, 4, 7, 8, 12, and 13 did not reveal any variations. Two other sibs presented almost the same dysmorphic features; one girl died at age 6\u00bc years after an acute episode of renal insufficiency, and one boy died at 40 days of age. Differential diagnosis is discussed and the possibility of the report of a new autosomal recessive syndrome with variable expressivity is raised. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30239","type":"journal-article","created":{"date-parts":[[2004,6,22]],"date-time":"2004-06-22T07:02:21Z","timestamp":1087887741000},"page":"414-417","source":"Crossref","is-referenced-by-count":7,"title":["New autosomal recessive syndrome with short stature and facio\u2013auriculo\u2013thoracic malformations"],"prefix":"10.1002","volume":"128A","author":[{"given":"Andr\u00e9","family":"M\u00e9garban\u00e9","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda","family":"Daou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hala","family":"M\u00e9garban\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9l\u00e8ne","family":"Cave","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eliane","family":"Chouery","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alain","family":"Verloes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,6,21]]},"reference":[{"key":"e_1_2_4_2_1","volume-title":"POSSUM: Pictures of standard syndromes and undiagnosed malformations","author":"Bankier A","year":"2001"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1452"},{"key":"e_1_2_4_4_1","volume-title":"Hereditary hearing loss and its syndromes","author":"Gorlin RJ","year":"1995"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290112"},{"key":"e_1_2_4_6_1","doi-asserted-by":"crossref","unstructured":"M\u00e9garban\u00e9A ChoueryE RassiS DelagueV.2004.A new autosomal recessive Oto\u2010Facial syndrome with midline malformations. (submitted).","DOI":"10.1002\/ajmg.a.30479"},{"key":"e_1_2_4_7_1","first-page":"51","article-title":"Study of a child with an \u2018idiopathic\u2019 malformation\/mental retardation syndrome","volume":"11","author":"Pilotto RF","year":"1975","journal-title":"BDOAS"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320430312"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng772"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/340847"},{"key":"e_1_2_4_11_1","first-page":"283","article-title":"Hypertelorism\u2010microtia\u2010clefting (HMC) syndrome","volume":"5","author":"Verloes A","year":"1994","journal-title":"Genetic Counseling"},{"key":"e_1_2_4_12_1","volume-title":"London dysmorphology database","author":"Winter RM","year":"2003"}],"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.30239","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30239","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T18:06:10Z","timestamp":1700157970000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30239"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,6,21]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2004,8]]}},"alternative-id":["10.1002\/ajmg.a.30239"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30239","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,6,21]]}}}