{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:32:15Z","timestamp":1760729535780},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2003,6,25]],"date-time":"2003-06-25T00:00:00Z","timestamp":1056499200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a family with a distinctive malformation of the hand consisting of the fusion of the 4th and the 5th metacarpal bones. Usually this anomaly is clinically recognizable by an ulnar deviation of the 5th finger; moreover, the 5th metacarpal is usually hypoplastic and the 5th ray is consequently short. There is, however, great variability in expression, so the degree of fusion may range from minimal to complete and also the external aspect of the hand may vary. This anomaly can be either isolated or part of a syndrome. For the isolated form, two possible hereditary mechanisms have been proposed: autosomal dominant and X\u2010linked recessive. Our family is consistent with the latter, with only affected males and no instances of male\u2010to\u2010male transmission. Of note, there are very few X\u2010linked recessive disorders that affect the hand in a such a specific way. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20382","type":"journal-article","created":{"date-parts":[[2004,1,16]],"date-time":"2004-01-16T09:00:32Z","timestamp":1074243632000},"page":"407-410","source":"Crossref","is-referenced-by-count":12,"title":["A family with X\u2010linked recessive fusion of metacarpals IV and V"],"prefix":"10.1002","volume":"124A","author":[{"given":"Fortunato","family":"Lonardo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matteo","family":"Della Monica","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Riccardi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilaria","family":"Riccio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Riccio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gioacchino","family":"Scarano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,6,25]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00591081"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520230"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0363-5023(93)90292-B"},{"key":"e_1_2_7_5_1","first-page":"17","article-title":"Mapping of the gene for X\u2010chromosomal split\u2010hand\/split\u2010foot anomaly to Xq26\u2010q26.1","volume":"91","author":"Faiyaz ul Haque M","year":"1992","journal-title":"Hum Genet"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-200110000-00019"},{"key":"e_1_2_7_7_1","first-page":"521","article-title":"Familiaere synostosis metacarpi IV und V","volume":"100","author":"Habighorst LV","year":"1965","journal-title":"Z Orthop"},{"key":"e_1_2_7_8_1","first-page":"562","article-title":"Metacarpal 4\u20135 fusion with X\u2010linked recessive inheritance","volume":"24","author":"Holmes LB","year":"1972","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0072-968X(83)80015-1"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0266-7681(98)80030-2"},{"key":"e_1_2_7_11_1","first-page":"13","article-title":"Erbliche Synostosen der Ossa metacarpalia IV und V","volume":"78","author":"Lerch H","year":"1948","journal-title":"Z Orthop"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0363-5023(88)90206-7"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0363-5023(93)90390-O"},{"key":"e_1_2_7_14_1","first-page":"244","article-title":"Kleine Beitrage zur Vererbungswissenschaft. Synostosis metacarpi quarti et quinti","volume":"14","author":"Orel H","year":"1928","journal-title":"Z Anat"},{"key":"e_1_2_7_15_1","first-page":"70","article-title":"A case of bilateral congenital bony syndactyly of the IV\u2013V metacarpals","volume":"41","author":"Shiryak FM","year":"1961","journal-title":"Arkh Anat"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-200004050-00022"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20382","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20382","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T08:21:45Z","timestamp":1697444505000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20382"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,6,25]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2004,2]]}},"alternative-id":["10.1002\/ajmg.a.20382"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20382","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,6,25]]}}}