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Genet."],"published-print":{"date-parts":[[1989,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe 2 male maternal first cousins, 7 years and 7 months old, with a previously unreported pattern of malformations including lax skin, joint hyperextensibility, umbilical and inguinal herniae, craniosynostosis, pectus carinatum, several abnormally shaped vertebrae, enamel hypoplasia and hypocalcification of the teeth, facial abnormalities and wide webbed neck, ambiguous genitalia, multiple nodular liver tumors, and mild psychomotor retardation. The occurrence of 2 male children related through their mothers suggests the possibility of X\u2010linked recessive inheritance. It is proposed to call this disorder the SCARF syndrome (skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormalities).<\/jats:p>","DOI":"10.1002\/ajmg.1320340302","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:32:04Z","timestamp":1118547124000},"page":"305-312","source":"Crossref","is-referenced-by-count":26,"title":["Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome)"],"prefix":"10.1002","volume":"34","author":[{"given":"Roswitha","family":"Koppe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paige","family":"Kaplan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alasdair","family":"Hunter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brock","family":"MacMurray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210313"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2133.1969.tb13975.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.9.2.216"},{"key":"e_1_2_1_5_1","series-title":"BD:OAS","first-page":"293","volume-title":"Cytogenetics, Environment, and Malformation Syndromes","author":"Byers PH","year":"1976"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198007103030201"},{"key":"e_1_2_1_7_1","first-page":"23","article-title":"Cutis laxa with craniofacial, limb, genital and brain defects","volume":"2","author":"Hood OJ","year":"1984","journal-title":"Clin Dysmorphol"},{"key":"e_1_2_1_8_1","first-page":"307","volume-title":"Skeletal Dysplasias","author":"Kaitila II","year":"1982"},{"key":"e_1_2_1_9_1","series-title":"BD:OAS","first-page":"130","volume-title":"Malformation Syndromes","author":"Kaye CI","year":"1975"},{"key":"e_1_2_1_10_1","first-page":"115","article-title":"Cutis laxa, skeletal anomalies and ambiguous genitalia","volume":"127","author":"Kaye CI","year":"1974","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210312"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240115"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(77)81311-5"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80371-0"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320340302","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320340302","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T18:20:43Z","timestamp":1697998843000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320340302"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,11]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1989,11]]}},"alternative-id":["10.1002\/ajmg.1320340302"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320340302","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,11]]}}}