{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:10Z","timestamp":1761717970962},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7672,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1984,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a large Brazilian kindred with 28 cases of the autosomal dominant multiple synostosis syndrome. The main anomalies were symphalangism and carpal and tarsal synostoses. Other common findings included synostosis involving other bones, absence of phalanges and nails, short metacarpals, pes planovalgus with prominent lateral border, hypoplastic alae of nose, short upper lip, and dermatoglyphic abnormalities. This may be a variant of the WL syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320180208","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:42:31Z","timestamp":1118518951000},"page":"237-247","source":"Crossref","is-referenced-by-count":14,"title":["Multiple synostosis syndrome: Study of a large Brazilian kindred"],"prefix":"10.1002","volume":"18","author":[{"given":"Elias O.","family":"da\u2010Silva","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00edlvio M.","family":"Filho","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00edlvio C.","family":"de Albuquerque","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":"10.1148\/56.6.882"},{"key":"e_1_2_1_3_1","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.2106\/00004623-195739050-00017","article-title":"Massive familial tarsal synostosis","volume":"39","author":"Bersani FA","year":"1957","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_4_1","first-page":"682","article-title":"Congenital talonavicular synostosis","volume":"26","author":"Boyd HB","year":"1944","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1975.tb01957.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1093\/genetics\/1.1.90","article-title":"Hereditary anchylosis of the proximal phalangeal joints (symphalangism)","volume":"1","author":"Cushing H","year":"1916","journal-title":"Genetics"},{"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","first-page":"64","article-title":"Dominant erbliche doppelseitige Dysplasie und Synostose des Ellenbogengelenks. 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A new inherited syndrome","volume":"19","author":"Goeminne L","year":"1970","journal-title":"Acta Genet Med Gemellol"},{"key":"e_1_2_1_10_1","first-page":"23","article-title":"Symphalangism and brachydactyly syndrome: Report of the WL symphalangismbrachydachtyly syndrome: Review of literature and classification","volume":"5","author":"Herrmann J","year":"1974","journal-title":"Birth Defects Orig Art Ser"},{"key":"e_1_2_1_11_1","first-page":"3041","article-title":"La maladie des synostoses multiples","volume":"1","author":"Maroteaux P","year":"1972","journal-title":"Nouv Press Med"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/SQB.1964.029.01.015"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1129318"},{"key":"e_1_2_1_14_1","first-page":"48","article-title":"The multiple synostosis syndrome. A plea for simplicity","volume":"135","author":"Nixon JR","year":"1978","journal-title":"Clin Orthop Relat Res"},{"key":"e_1_2_1_15_1","doi-asserted-by":"crossref","first-page":"585","DOI":"10.2106\/00004623-196446030-00015","article-title":"Familial tarsal and carpal synostosis with radial\u2010head subluxation (Nievergelt's syndrome)","volume":"46","author":"Pearlman HS","year":"1964","journal-title":"J Bone Joint Surg"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441486"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1148\/95.1.129"},{"key":"e_1_2_1_18_1","first-page":"29","article-title":"Congenital fusion of astragalus and scaphoid: Bilateral; inherited","volume":"35","author":"Rothberg AS","year":"1935","journal-title":"NY J Med"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-21-250-513"},{"key":"e_1_2_1_20_1","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1093\/oxfordjournals.jhered.a105757","article-title":"Further data on symphalangism","volume":"39","author":"Steinberg AG","year":"1948","journal-title":"J Hered"},{"key":"e_1_2_1_21_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_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.13.5.394"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196010272631706"},{"key":"e_1_2_1_24_1","first-page":"166","article-title":"Proximal symphalangism of fingers associated with fusion of os naviculare and talus and occurrence of two accessory bones in the feet (os paranaviculare and os tibiale externum) in an European\u2010Indonesian\u2010Chinese family","volume":"17","author":"Wildervanck LS","year":"1967","journal-title":"Acta Genet"},{"key":"e_1_2_1_25_1","doi-asserted-by":"crossref","first-page":"365","DOI":"10.2106\/00004623-196345020-00016","article-title":"Hereditary transmission of congenital coalition of the calcaneus to the navicular","volume":"45","author":"Wray JB","year":"1963","journal-title":"J Bone Joint Surg"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320180208","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320180208","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T12:47:40Z","timestamp":1697806060000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320180208"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,6]]},"references-count":24,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1984,6]]}},"alternative-id":["10.1002\/ajmg.1320180208"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320180208","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,6]]}}}