{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,15]],"date-time":"2023-11-15T13:10:23Z","timestamp":1700053823075},"reference-count":35,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,11,21]],"date-time":"2006-11-21T00:00:00Z","timestamp":1164067200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2007,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>BACKGROUND:<\/jats:bold> At least five distinct loci have been implicated in split hand foot malformation (SHFM). Establishing genotype\/phenotype correlations at the chromosomal level may elucidate responsible developmental genes and improve patient management. In our analysis of previously published genetically mapped SHFM cases, preaxial hand involvement was a significant discriminating variable, most commonly seen at the SHFM3 locus (OMIM 600095) at 10q24. Of the 47 SHFM3 patients analyzed, 15 (31.9%) had triphalangeal thumb (TPT), a limb finding not reported at any other locus. <jats:bold>METHODS:<\/jats:bold> The association of TPT\/split foot, in particular, prompted us to review the literature for similar cases. <jats:bold>RESULTS:<\/jats:bold> We ascertained a number of unmapped familial and sporadic cases with TPT\/split foot, including a group of patients with triphalangeal thumb\u2010brachyectrodactyly syndrome. Certain trends were similar in both SHFM3 and these unmapped literature cases. With respect to gender, 7\/12 (58%) of mapped SHFM3 cases with TPT\/split foot were male whereas 5\/12 (42%) were female, compared with 22\/50 (44%) males and 28\/50 (56%) females among unmapped cases (<jats:italic>P<\/jats:italic> = 0.3715). Individuals in both groups usually had bilateral involvement, with 67 and 60% showing bilateral TPT among mapped and literature cases, respectively (<jats:italic>P<\/jats:italic> = 0.6714). Bilateral involvement of the feet was even more striking (83% of SHFM3 patients and 96% of literature cases; <jats:italic>P<\/jats:italic> = 0.0808). <jats:bold>CONCLUSIONS:<\/jats:bold> Patients with TPT\/split foot may in fact represent SHFM3 cases and should be evaluated for genomic rearrangements at 10q24. TPT may be identified only by radiographic analysis, emphasizing the importance of imaging these patients and their family members. Birth Defects Research (Part A) 2007. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/bdra.20317","type":"journal-article","created":{"date-parts":[[2006,11,22]],"date-time":"2006-11-22T00:53:47Z","timestamp":1164156827000},"page":"58-61","source":"Crossref","is-referenced-by-count":3,"title":["Triphalangeal thumb in association with split hand\/foot: A phenotypic marker for SHFM3?"],"prefix":"10.1002","volume":"79","author":[{"given":"Alison M.","family":"Elliott","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin H.","family":"Reed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane A.","family":"Evans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,11,21]]},"reference":[{"key":"e_1_2_6_2_1","volume-title":"Congenital Deformities of the Upper Extremities","author":"Birch\u2010Jensen A","year":"1949"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-410X.1961.tb11646.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00881.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0072-968X(74)90010-2"},{"key":"e_1_2_6_6_1","first-page":"279","article-title":"K\u00f6rperliche Mi\u00dfbildungen","volume":"6","author":"Eckhardt H","year":"1940","journal-title":"Handb der Krbkrankheiten (German)"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00511.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb00914.x"},{"key":"e_1_2_6_9_1","article-title":"\u00dcber Mi\u00dfbildungen der unteren Gliedma\u00dfen und ihre othop\u00e4dishe Behandlung","author":"Franzmeier K","year":"1962","journal-title":"Diss med Berlin"},{"key":"e_1_2_6_10_1","first-page":"47","article-title":"\u00dcber verebliche Polydaktylie","volume":"9","author":"Grote LR","year":"1923","journal-title":"Z Konstit\u2010Lehre"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31375"},{"key":"e_1_2_6_12_1","first-page":"265","article-title":"Anatomische und erbbiologishe Untersuchungen an einer mit Spaltf\u00fc\u00dfen und Mibbildungen der H\u00e4nde behafteten Sippe","volume":"70","author":"Klages F","year":"1940","journal-title":"Zschr Orthop (German)"},{"key":"e_1_2_6_13_1","article-title":"Untersuchungen zur \u00c4tiologie reduktiver Extremit\u00e4tenmi\u00dfbildungen","author":"Klinghammer W","year":"1981","journal-title":"Inaug\u2010Diss Franfurt am Main"},{"key":"e_1_2_6_14_1","first-page":"251","article-title":"Triphalangeal thumb and split foot in the same family","volume":"1","author":"Le Marec B","year":"1990","journal-title":"Genet Couns"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/biomet\/6.1.26"},{"key":"e_1_2_6_16_1","first-page":"136","article-title":"Beitr\u00e4ge zum famili\u00e4ren Vorkommen von Spalth\u00e4nden und Spaltf\u00fc\u00dfen","volume":"22","author":"Liebenam L","year":"1938","journal-title":"Zschr Verebungs\u2010Konstitutionslehre"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31247"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb01038.x"},{"key":"e_1_2_6_19_1","first-page":"81","article-title":"\u00dcber Kongenitale Mi\u00dfbildungen des menschlichen Extremit\u00e4tenskeletts mit R\u00f6ntgenbildern","volume":"8","author":"Nigst PF","year":"1927","journal-title":"Schweiz med Wschr"},{"key":"e_1_2_6_20_1","first-page":"147","volume-title":"Monstruorum sexcentorum descriptio anatomica","author":"Otto AG","year":"1841"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1086\/302403"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0736-0266(02)00008-6"},{"key":"e_1_2_6_23_1","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1302\/0301-620X.53B2.247","article-title":"Congenital split foot (lobster claw) and triphalangeal thumb","volume":"53","author":"Phillips RS","year":"1971","journal-title":"J Bone Joint Surg Br"},{"key":"e_1_2_6_24_1","first-page":"110","article-title":"Ectrodactyly","volume":"79","author":"Pillay VK","year":"1965","journal-title":"Singapore Med J"},{"key":"e_1_2_6_25_1","first-page":"331","article-title":"A Familial Lobster Claw. 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