{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T10:05:39Z","timestamp":1776852339625,"version":"3.51.2"},"reference-count":12,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2010,8,3]],"date-time":"2010-08-03T00:00:00Z","timestamp":1280793600000},"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":[[2010,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 25\u2010year follow\u2010up of a Pakistani kindred with a unique combination of camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. The less common anomalies in the affected subjects include syndactyly involving all digits, and bifid toes. This condition is grossly bilateral, symmetrical, and affects upper and lower limbs of the 26 affected subjects in the kindred. The comparable number of affected male and female subjects (<jats:italic>\u03c7<\/jats:italic><jats:sup>2<\/jats:sup>\u2009=\u20090.154, <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.1), disease allele transmission by mother and father, and the malformation segregation in four consecutive generations are strongly suggestive of autosomal dominant inheritance. Differential diagnosis considered syndactyly types II, III, and V. Only type II syndactyly manifests noticeable phenotypic overlap with the clinical presentation in this family; however, the typical type II syndactyly changes are absent. To the best of our knowledge, this autosomal dominant limb phenotype has not been reported previously. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33552","type":"journal-article","created":{"date-parts":[[2010,8,3]],"date-time":"2010-08-03T22:03:32Z","timestamp":1280873012000},"page":"2313-2317","source":"Crossref","is-referenced-by-count":2,"title":["Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes"],"prefix":"10.1002","volume":"152A","author":[{"given":"Sajid","family":"Malik","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muhammad","family":"Afzal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sumera","family":"Gul","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdul","family":"Wahab","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahmud","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,8,3]]},"reference":[{"key":"e_1_2_6_2_1","first-page":"355","article-title":"Familial camptodactyly","volume":"8","author":"Brites MM","year":"1998","journal-title":"Eur J Dermatol"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.14.7458"},{"key":"e_1_2_6_4_1","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1093\/oxfordjournals.jhered.a107253","article-title":"Syndactyly and clinodactyly within a Indian kindred","volume":"54","author":"Malhotra KC","year":"1963","journal-title":"J Hered"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00935.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201492"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00620.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-8-78"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201957"},{"key":"e_1_2_6_10_1","volume-title":"The genetics of hand malformations","author":"Temtamy SA","year":"1978"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01147.x"},{"key":"e_1_2_6_12_1","unstructured":"WahabA.1986.Certain aspects of human genetics in Pakistan. MPhil Thesis. Department of Biological Sciences Quaid\u2010i\u2010Azam University Islamabad Pakistan."},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.3.2.104"}],"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.33552","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33552","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T06:01:29Z","timestamp":1697608889000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33552"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8,3]]},"references-count":12,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2010,9]]}},"alternative-id":["10.1002\/ajmg.a.33552"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33552","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,8,3]]}}}