{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T13:44:51Z","timestamp":1791121491222,"version":"4.1.0"},"reference-count":9,"publisher":"BMJ","issue":"10","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1998,10]]},"abstract":"<jats:p>Syndactyly type I is an autosomal dominant condition with complete or partial webbing between the third and fourth fingers or the second and third toes or both. We report here a previously undescribed phenotype of severe mesoaxial syndactyly and synostosis in patients born to affected parents. The characteristic features of these severe cases are (1) complete syndactyly and synostosis of the third and fourth fingers; (2) severe bone reduction in the proximal phalanges of the same fingers; (3) hypoplasia of the thumbs and halluces; (4) aplasia\/hypoplasia of the middle phalanges of the second and fifth fingers; and (5) complete or partial soft tissue syndactyly of the toes. We report on three offspring with this phenotype from two different branches of a syndactyly type I family, suggesting that they may be homozygous for this condition. SSCP and linkage analysis indicated that neither HOXD13 nor other relevant genes in the chromosome 2q31 region was responsible for this phenotype.<\/jats:p>","DOI":"10.1136\/jmg.35.10.868","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"868-874","source":"Crossref","is-referenced-by-count":18,"title":["Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I?"],"prefix":"10.1136","volume":"35","author":[{"given":"E F","family":"Percin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Percin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Egilmez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I","family":"Sezgin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F","family":"Ozbas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A N","family":"Akarsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1998,10,1]]},"reference":[{"key":"ref_1","first-page":"301","article-title":"The genetics of hand malformations","volume":"3","author":"Temtamy, S.A.; McKusick, V.A.","year":"1978","unstructured":"Temtamy SA, McKusick VA. The genetics of hand malformations. Birth Defects 1978;XIV(3):301-2.","journal-title":"Birth Defects"},{"key":"ref_2","first-page":"96","article-title":"Syndactylies and polydactylies; embryological overview and suggested classification. Eur.7 Hum Genet","volume":"1","author":"Winter, R.M.; Tickle, C.","year":"1993","unstructured":"Winter RM, Tickle C. Syndactylies and polydactylies; embryological overview and suggested classification. Eur.7 Hum Genet 1993;1:96-104."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1126\/science.272.5261.548","article-title":"Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13","volume":"272","author":"Muragaki, Y.; Mundlos, S.; Upton, J.; Olsen, B.R.","year":"1996","unstructured":"Muragaki Y, Mundlos S, Upton J, Olsen BR. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. 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GATA 1992;9:73-9.","journal-title":"GATA"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1453","DOI":"10.1093\/hmg\/4.8.1453","article-title":"Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker","volume":"4","author":"Sarfarazi, M.; Akarsu, A.N.; Sayly, B.S.","year":"1995","unstructured":"Sarfarazi M, Akarsu AN, Sayly BS. Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker. Hum Mol Genet 1995;4:1453-8.","journal-title":"Hum Mol Genet"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1136\/jmg.32.6.421","article-title":"A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data","volume":"32","year":"1995","unstructured":"Sayli BS, Akarsu AN, Sayli U, Akhan 0, Ceylaner S, Sarfarazi M. A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data. JMed Genet 1995;32:421-34.","journal-title":"JMed Genet"},{"key":"ref_8","first-page":"435","article-title":"Homozygous phenotype?","volume":"32","year":"1995","unstructured":"Homozygous phenotype? Y Med Genet 1995;32:435-41.","journal-title":"Y Med Genet"},{"key":"ref_9","article-title":"Mendelian inheritance in man","author":"McKusick, V.A.","year":"1992","unstructured":"McKusick VA. Mendelian inheritance in man. 10th ed. Baltimore: The Johns Hopkins University Press, 1992.","edition":"10th ed"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.35.10.868","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:48:19Z","timestamp":1760762899000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.35.10.868"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,10]]},"references-count":9,"journal-issue":{"issue":"10","published-online":{"date-parts":[[1998,10,1]]},"published-print":{"date-parts":[[1998,10]]}},"alternative-id":["10.1136\/jmg.35.10.868"],"URL":"https:\/\/doi.org\/10.1136\/jmg.35.10.868","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,10]]}}}