{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T04:10:22Z","timestamp":1699848622570},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":8918,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1981,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a new autosomal dominant condition involving hands and feet of an Arabic father and 5 of his 11 children. This trait is characterized by symphalangism, syndactyly, brachydactyly type D, clinodactyly, and hypoplasia of the thenar and hypothenar eminences. Affected persons had symphalangism and syndactyly plus some or all or part of the other anomalies. Symphalangism, the main defect in this syndrome, showed variable expressivity. A distinct dermatoglyphic pattern was observed in all affected relatives. Linkage studies were done; however, no linkage was demonstrated.<\/jats:p>","DOI":"10.1002\/ajmg.1320100308","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:39:18Z","timestamp":1118511558000},"page":"245-255","source":"Crossref","is-referenced-by-count":7,"title":["Symphalangism with multiple anomalies of the hands and feet: A new genetic trait"],"prefix":"10.1002","volume":"10","author":[{"given":"Yaffa","family":"Learman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariassa Bat\u2010Miriam","family":"Katznelson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"BatSheva","family":"Bonn\u00e9\u2010Tamir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joel","family":"Engel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjorie","family":"Hertz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard M.","family":"Goodman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"103","article-title":"Dermatoglyphics in birth defects","volume":"3","author":"Alter M","year":"1969","journal-title":"BD:OAS"},{"key":"e_1_2_1_3_1","first-page":"1","volume-title":"On brachydactyly and symphalangism","author":"Bell J","year":"1951"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1093\/genetics\/1.1.90","article-title":"Hereditary ankylosis of the proximal phalageal joints (symphalangism)","volume":"1","author":"Cushing H","year":"1916","journal-title":"Genetics"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197209072871004"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1177\/003591571701001207","article-title":"Phalangeal anarthrosis transmitted through fourteen generations","volume":"10","author":"Drinkwater H","year":"1917","journal-title":"Proc Roy Soc Med"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.1.5537.407"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1943.02010160034004"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00440561"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1148\/89.1.91"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1093\/oxfordjournals.jhered.a102395","article-title":"Inherited abnormalities of the fingers. II. Short thumbs (brachymegalodactylism)","volume":"15","author":"Hefner RA","year":"1924","journal-title":"J Hered"},{"key":"e_1_2_1_12_1","first-page":"23","article-title":"Symphalangism and brachydactyly syndrome: Report of WL symphalangism\u2010bra\u2010cydactyly syndrome: Review of literature and classification","volume":"5","author":"Herrmann J","year":"1974","journal-title":"BD:OAS"},{"key":"e_1_2_1_13_1","volume-title":"Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive and X\u2010Linked Phenotypes","author":"McKusick VA","year":"1978"},{"key":"e_1_2_1_14_1","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1093\/oxfordjournals.jhered.a105757","article-title":"Further data on symphalangism","volume":"39","author":"Steinberg AS","year":"1948","journal-title":"J Hered"},{"key":"e_1_2_1_15_1","first-page":"108","article-title":"Symphalangism, genetic and clinical aspects","volume":"117","author":"Strasburger AK","year":"1965","journal-title":"Bull Johns Hopkins Hosp"},{"key":"e_1_2_1_16_1","series-title":"BD:OAS","volume-title":"The Genetics of Hand Malformations","author":"Temtamy S","year":"1978"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196010272631706"},{"key":"e_1_2_1_18_1","first-page":"185","article-title":"A case of familial congenital synostosis in the carpal and tarsal bones","volume":"12","author":"Voldere J","year":"1960","journal-title":"Arch Chir"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320100308","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320100308","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T03:32:30Z","timestamp":1699846350000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320100308"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1981,1]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1981,1]]}},"alternative-id":["10.1002\/ajmg.1320100308"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320100308","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1981,1]]}}}