{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T13:45:23Z","timestamp":1791121523137,"version":"4.1.0"},"reference-count":34,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2007,12,19]],"date-time":"2007-12-19T00:00:00Z","timestamp":1198022400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2008,2]]},"abstract":"<jats:p>Synpolydactyly (SPD) is a rare limb deformity showing a distinctive combination of syndactyly and polydactyly. Of the nine non\u2010syndromic syndactylies, it is clinically and genetically one of the most heterogeneous malformation. SPD families may show clinical features consistent with the Temtamy and McKusick criteria as well as additional phenotypic variants, which vary from case to case. In certain instances, these variants predominate in a given family, while the typical SPD features remain less explicit. We have reviewed all the clinical variants occurring in well\u2010documented SPD families. We conclude that typical SPD features can be delineated from minor clinical variants. Then, we propose to lump all the phenotypic variants, manifesting themselves in SPD families into three categories: (i) typical SPD features, (ii) minor variants, and (iii) unusual phenotypes. Next, we discuss the likely reasons for the occurrence of minor variants and the obvious lack of penetrance in SPD families. Finally, we show that for the SPD phenotype associated with <jats:italic>HOXD13<\/jats:italic> mutations, a straightforward genotype\u2013phenotype correlation is weak. Our lumping and splitting scheme for SPD phenotypic variants could be useful for the understanding of this interesting malformation.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2007.00935.x","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T10:24:17Z","timestamp":1232706257000},"page":"113-120","source":"Crossref","is-referenced-by-count":57,"title":["Synpolydactyly: clinical and molecular advances"],"prefix":"10.1111","volume":"73","author":[{"given":"S","family":"Malik","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K\u2010H","family":"Grzeschik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,12,19]]},"reference":[{"key":"e_1_2_11_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.6.421"},{"key":"e_1_2_11_3_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.14.7458"},{"key":"e_1_2_11_4_2","first-page":"301","volume-title":"The genetics of hand malformations","author":"Temtamy SA","year":"1978"},{"key":"e_1_2_11_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30971"},{"key":"e_1_2_11_6_2","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-8-78"},{"key":"e_1_2_11_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.8.1453"},{"key":"e_1_2_11_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.2.98"},{"key":"e_1_2_11_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00620.x"},{"key":"e_1_2_11_10_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.6.435"},{"key":"e_1_2_11_11_2","first-page":"A265","article-title":"Mapping of the second locus of postaxial polydactyly type A(PAP\u2010A2) to chromosome 13q21\u2010q32","volume":"61","author":"Akarsu AN","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_11_12_2","doi-asserted-by":"publisher","DOI":"10.1086\/302070"},{"issue":"2","key":"e_1_2_11_13_2","first-page":"153","article-title":"Cenani\u2013Lenz syndrome in father and daughter","volume":"7","author":"De Smet L","year":"1996","journal-title":"Genet Couns"},{"key":"e_1_2_11_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2006.01.004"},{"key":"e_1_2_11_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201492"},{"key":"e_1_2_11_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320050406"},{"issue":"3","key":"e_1_2_11_17_2","first-page":"229","article-title":"A simple method for characterising syndactyly in clinical practice","volume":"16","author":"Malik S","year":"2005","journal-title":"Genet Couns"},{"key":"e_1_2_11_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10397"},{"key":"e_1_2_11_19_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.272.5261.548"},{"key":"e_1_2_11_20_2","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199807000-00014"},{"key":"e_1_2_11_21_2","doi-asserted-by":"publisher","DOI":"10.1159\/000015036"},{"key":"e_1_2_11_22_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.0954-6820.1926.tb12297.x"},{"key":"e_1_2_11_23_2","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jhered.a105689"},{"key":"e_1_2_11_24_2","first-page":"30","volume-title":"The treasury of human inheritance","author":"Bell J","year":"1953"},{"key":"e_1_2_11_25_2","first-page":"297","volume-title":"Humangenetik Ein kurzes handbuch in f\u00fcnf b\u00e4nden","author":"Grebe H","year":"1964"},{"issue":"4","key":"e_1_2_11_26_2","first-page":"368","article-title":"Type II syndactyly","volume":"20","author":"Cross HE","year":"1968","journal-title":"Am J Hum Genet"},{"key":"e_1_2_11_27_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00396"},{"key":"e_1_2_11_28_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20103"},{"key":"e_1_2_11_29_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhsb.2004.06.008"},{"key":"e_1_2_11_30_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004410051262"},{"key":"e_1_2_11_31_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature05919"},{"key":"e_1_2_11_32_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.590101.x"},{"key":"e_1_2_11_33_2","doi-asserted-by":"publisher","DOI":"10.1086\/374721"},{"key":"e_1_2_11_34_2","doi-asserted-by":"publisher","DOI":"10.1086\/511387"},{"key":"e_1_2_11_35_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.3.237"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2007.00935.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2007.00935.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T04:27:07Z","timestamp":1696912027000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2007.00935.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,12,19]]},"references-count":34,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2008,2]]}},"alternative-id":["10.1111\/j.1399-0004.2007.00935.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2007.00935.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,12,19]]}}}