{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T15:40:13Z","timestamp":1698334813229},"reference-count":6,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4144,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a father and his daughter who had a unique pattern of preaxial brachydactyly, and unusual facial appearance. Both had short broad abducted thumbs and halluces. The second digits of both hands were also short and broad and those of feet were medially angulated. The radiographic findings were short first metacarpals and first metatarsals and hypoplastic phalanges of first two digits of hands and feet. A similar pattern of brachydactyly was described by Christian et al. [1972: Am J Hum Genet 24:694\u2013701] and Mononen et al. [1992: Am J Med Genet 42:706\u2013713]. Our patients differ from those described by Christian et al. in that they did not have any mental retardation and from those of Mononen et al. by the absence of short stature and epiphyseal and metaphyseal changes. The heterogeneity of this new type of brachydactyly remains to be resolved. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320490306","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:56:27Z","timestamp":1118508987000},"page":"274-277","source":"Crossref","is-referenced-by-count":5,"title":["Preaxial brachydactyly with abduction of thumbs and hallux varus: A distinct entity"],"prefix":"10.1002","volume":"49","author":[{"given":"Anita K.","family":"Sharma","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashutosh","family":"Haldar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shubha R.","family":"Phadke","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. S.","family":"Agarwal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"1","volume-title":"Treasury of Human Inheritance","author":"Bell J","year":"1951"},{"key":"e_1_2_1_3_1","first-page":"694","article-title":"Dominant preaxial brachydactyly with hallux varus and thumb abduction","volume":"24","author":"Christian JC","year":"1972","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","unstructured":"FarabeeWS(1903):Hereditary and sexual influence in meristic variation. A study of digital malformations in man. Ph.D. dissertation Harvard University."},{"key":"e_1_2_1_5_1","first-page":"1340","volume-title":"Birth Defects Encyclopedia","author":"Gorlin RJ","year":"1990"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420516"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370603"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320490306","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320490306","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T05:33:21Z","timestamp":1698212001000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320490306"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,2]]},"references-count":6,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1994,2]]}},"alternative-id":["10.1002\/ajmg.1320490306"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320490306","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,2]]}}}