{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T14:40:36Z","timestamp":1770820836057,"version":"3.50.1"},"reference-count":95,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2008,3,28]],"date-time":"2008-03-28T00:00:00Z","timestamp":1206662400000},"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":[[2008,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>BACKGROUND:<\/jats:bold> Split hand foot malformation (SHFM) (cleft hand, central ray deficiency) is a highly variable malformation that shows genetic heterogeneity with at least five loci mapped to date. SHFM occurs as an isolated finding or in association with other anomalies, including congenital heart defects (CHDs). <jats:bold>METHODS:<\/jats:bold> In total 48 SHFM1, 52 SHFM3, 48 SHFM4, 21 SHFM5, and four chromosome 8 patients were evaluated. In addition, we performed a literature review to identify \u201cunmapped\u201d SHFM patients with CHD to evaluate the various etiologies of this combination of findings. The London Dysmorphology Database also served as a resource to identify syndromes with this combination of phenotypic findings. Only patients presenting with <jats:styled-content>both<\/jats:styled-content> SHFM and CHD were included in the analysis. Classification of CHD among mapped and unmapped SHFM patients was performed utilizing the revised Clark classification. A closer inspection of the types of CHD found in this patient group was performed in order to investigate possible pathogenetic mechanisms. <jats:bold>RESULTS:<\/jats:bold> CHDs were found in 10% of SHFM1 patients, 47% of SHFM5 patients, but were not reported in SHFM2, SHFM4 patients, or patients mapped to chromosome 8. Forty\u2010two syndromic cases and 15 cases of unrecognized syndromes were identified. <jats:bold>CONCLUSIONS:<\/jats:bold> The higher frequency of heart defects seen in SHFM1 and SHFM5 of the mapped patient group raises the question as to whether common mechanisms\/genetic players are involved. Candidate genes for SHFM1 and SHFM5 include members of the <jats:italic>DLX<\/jats:italic> homeobox gene family. Birth Defects Research (Part A), 2008. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/bdra.20452","type":"journal-article","created":{"date-parts":[[2008,3,29]],"date-time":"2008-03-29T03:10:46Z","timestamp":1206760246000},"page":"425-434","source":"Crossref","is-referenced-by-count":17,"title":["The association of split hand foot malformation (SHFM) and congenital heart defects"],"prefix":"10.1002","volume":"82","author":[{"given":"Alison M.","family":"Elliott","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jane 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