{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T22:53:25Z","timestamp":1780354405373,"version":"3.54.1"},"reference-count":4,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2008,4,30]],"date-time":"2008-04-30T00:00:00Z","timestamp":1209513600000},"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":[[2008,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two families and three sporadic cases have been described so far with the combination of radio\u2010ulnar synostosis and microcephaly as main features. Some authors have discussed whether the first family reported by Giuffr\u00e8 et al. [1994] and the second family described by Tsukahara et al. [1995] had the same syndrome. Although there is phenotypic variability among the described cases (especially with respect to facial dysmorphisms and mental retardation), the clinical patterns do not seem to be clearly distinguishable from each other. We describe another family with apparent X\u2010linked semi\u2010dominant inheritance with milder features in the female patient due to skewed X\u2010inactivation. From a clinical synopsis, we consider the Giuffr\u00e8\u2013Tsukahara syndrome as one genetic entity, which is characterized by the association of microcephaly and radio\u2010ulnar synostosis, mental retardation in male patients and variable minor features. Patients with the Giuffr\u00e8\u2013Tsukahara syndrome do not present with a characteristic pattern of facial features. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32314","type":"journal-article","created":{"date-parts":[[2008,4,30]],"date-time":"2008-04-30T19:47:52Z","timestamp":1209584872000},"page":"1453-1457","source":"Crossref","is-referenced-by-count":5,"title":["Clinical delineation of Giuffr\u00e8\u2013Tsukahara syndrome: Another case with microcephaly and radio\u2010ulnar synostosis with apparent X\u2010linked semi\u2010dominant inheritance"],"prefix":"10.1002","volume":"146A","author":[{"given":"Harald","family":"Gaspar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kurt","family":"Albermann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Baumer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert","family":"Schinzel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,4,30]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510319"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30415"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580214"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981228)80:5<526::AID-AJMG18>3.0.CO;2-L"}],"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.32314","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32314","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T08:25:13Z","timestamp":1697617513000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32314"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,4,30]]},"references-count":4,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2008,6]]}},"alternative-id":["10.1002\/ajmg.a.32314"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32314","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,4,30]]}}}