{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T14:39:58Z","timestamp":1770820798909,"version":"3.50.1"},"reference-count":85,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2005,8,31]],"date-time":"2005-08-31T00:00:00Z","timestamp":1125446400000},"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":[[2005,11]]},"abstract":"<jats:p>Split hand foot malformation (SHFM) is genetically heterogeneous with five loci mapped to date. Highly variable in presentation, it can occur as an isolated finding or with other anomalies. The genetic heterogeneity and clinical variability make genetic counselling of SHFM families challenging. By establishing genotype\/phenotype correlations, one can provide insight into responsible developmental genes and help to direct mapping efforts and target genetic testing, ultimately providing more accurate information for family members. Preaxial involvement of the upper extremities was a significant discriminating limb\u2010specific variable in our analysis of genetically mapped SHFM cases. This finding, which was originally identified through descriptive epidemiology, was subsequently confirmed by discriminant function analysis (p\u2003&lt;\u20030.0001) to be a significant locus discriminator. Preaxial involvement of the upper extremities was most commonly seen at the SHFM3 locus mapped to chromosome 10q24 (OMIM 600095) and consisted of proximally placed thumbs and\/or triphalangeal thumbs (TPT), preaxial polydactyly and\/or absence of the first ray. These patients' feet, however, tended to show a classical central longitudinal deficiency without a significant preaxial component. This article discusses this discrepant clefting pattern between the upper and lower extremities and proposes potential mechanisms.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2005.00511.x","type":"journal-article","created":{"date-parts":[[2005,8,31]],"date-time":"2005-08-31T09:42:35Z","timestamp":1125481355000},"page":"408-423","source":"Crossref","is-referenced-by-count":27,"title":["Discrepancies in upper and lower limb patterning in split hand foot malformation"],"prefix":"10.1111","volume":"68","author":[{"given":"AM","family":"Elliott","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MH","family":"Reed","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Roscioli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JA","family":"Evans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,8,31]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1086\/302972"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg212"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199301000-00008"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.5.375"},{"key":"e_1_2_7_6_2","first-page":"268","article-title":"Delezione interstiiziale del braccio lungo del cromosoma 7 e sue corelazioni cliniche","volume":"75","author":"Del Porto G","year":"1983","journal-title":"Pathologica"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1993.tb03843.x"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470606"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.6.405"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1991.tb03077.x"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.6.507"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.8.1355"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560102"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200009040-00001"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350118"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199410000-00001"},{"key":"e_1_2_7_17_2","first-page":"27","article-title":"Deletion 7q22 ectrodactyly","volume":"2","author":"Rivera H","year":"1991","journal-title":"Genet Couns"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.7.479"},{"key":"e_1_2_7_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.8.1345"},{"key":"e_1_2_7_20_2","first-page":"12","article-title":"Fine mapping of the autosomal dominant split hand\/split foot locus on chromosome 7, band q21.3\u2010q22.1","volume":"55","author":"Scherer SW","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390410"},{"key":"e_1_2_7_22_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.10.857"},{"key":"e_1_2_7_23_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.590105.x"},{"key":"e_1_2_7_24_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320212"},{"key":"e_1_2_7_25_2","first-page":"442","article-title":"Delineation of a complex karyotypic rearrangement by microdissection and CGH in a family affected with split foot","volume":"37","author":"Weimer J","year":"2000","journal-title":"J Med"},{"key":"e_1_2_7_26_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470426"},{"key":"e_1_2_7_27_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460505"},{"key":"e_1_2_7_28_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb03930.x"},{"key":"e_1_2_7_29_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00230215"},{"key":"e_1_2_7_30_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00369.x"},{"key":"e_1_2_7_31_2","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_7_32_2","doi-asserted-by":"publisher","DOI":"10.1086\/302403"},{"key":"e_1_2_7_33_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20348"},{"key":"e_1_2_7_34_2","first-page":"195","article-title":"Two cases of partial trisomy 10q in the same family caused by parental direct insertion [ins. 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