{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:24:36Z","timestamp":1760783076437,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1989,8]]},"abstract":"<jats:p>A mother and son are reported with bilateral, symmetrical syndactyly of the third, fourth, and fifth toes, mild craniosynostosis of the coronary sutures, and small pinnae. The same combination of malformations was recently described as a new syndrome by Kurczynsky and Casperson in a mother and her daughter. In addition, in the present family, the mother had fusion of two cervical vertebrae and a partial duplication of the first metatarsal. The child had a bilateral cleft lip and palate. The question is raised whether these patients represent a new syndrome or a variant of the Saethre-Chotzen syndrome.<\/jats:p>","DOI":"10.1136\/jmg.26.8.522","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"522-524","source":"Crossref","is-referenced-by-count":11,"title":["Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?"],"prefix":"10.1136","volume":"26","author":[{"given":"E","family":"Legius","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J P","family":"Fryns","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Van den Berghe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1989,8,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1136\/jmg.25.7.491","article-title":"Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome","volume":"25","author":"Kurczynski, T.W.; Casperson, S.M.","year":"1988","unstructured":"Kurczynski TW, Casperson SM. Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome. J Med Genet 1988;25: 491-3.","journal-title":"J Med Genet"},{"key":"ref_2","first-page":"533","volume":"117","author":"Saethre H. Ein BeitragzumTurmschadelproblem. (Pathogenese, Erblichkeit und Symptomatologie). Dtsch Z Nervenheilkd","year":"1931","unstructured":"Saethre H. Ein BeitragzumTurmschadelproblem. (Pathogenese, Erblichkeit und Symptomatologie). Dtsch Z Nervenheilkd 1931; 117:533-55."},{"key":"ref_3","first-page":"97","article-title":"Eine eigenartige familiare Entwicklungsstorung. (Akrocephalosyndaktylie, Dysostosis craniofacialis und Hypertelorismus.) Monatsschr Kinderheilkd 1932; 55","author":"Chotzen, R.","unstructured":"Chotzen R. Eine eigenartige familiare Entwicklungsstorung. (Akrocephalosyndaktylie, Dysostosis craniofacialis und Hypertelorismus.) Monatsschr Kinderheilkd 1932;55:97-122."},{"key":"ref_4","first-page":"328","volume-title":"The genetics of hand malfornations","volume":"3","author":"Temtamy, S.; McKusick, V.","year":"1978","unstructured":"Temtamy S, McKusick V. In: Bergsma D, ed. The genetics of hand malfornations. New York: Alan R Liss, Birth Defects 1978;XIV(3):328-50."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1016\/S0022-3476(77)80892-5","article-title":"SaethreChotzen syndrome: a broad and variable pattern of skeletal malformations","volume":"91","author":"Friedman, J.M.; Hanson, J.W.; Graham, C.B.; Smith, D.W.","year":"1977","unstructured":"Friedman JM, Hanson JW, Graham CB, Smith DW. SaethreChotzen syndrome: a broad and variable pattern of skeletal malformations. J Pediatr 1977;91:929-33.","journal-title":"J Pediatr"},{"key":"ref_6","article-title":"Recognizable patterns of human malformations","author":"Smith, D.W.","year":"1982","unstructured":"Smith DW. Recognizable patterns of human malformations. 3rd ed. Philadelphia: Saunders, 1982.","edition":"3rd ed"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1007\/BF00295694","article-title":"The Saethre-Chotzen syndrome with partial bifidity of the distal phalanges of the great toes","volume":"56","author":"Kopygd, J.; Staniska, M.; Ryzko, J.; Kulczyk, B.","year":"1980","unstructured":"Kopygd J, Staniska M, Ryzko J, Kulczyk B. The Saethre-Chotzen syndrome with partial bifidity of the distal phalanges of the great toes. Hum Genet 1980;56:195-204.","journal-title":"Hum Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1136\/jmg.19.4.280","article-title":"A family study of craniosynostosis, with probable recognition of a distinct syndrome","volume":"19","author":"Carter, C.; Till, K.; Frazer, V.; Coffey, R.","year":"1982","unstructured":"Carter C, Till K, Frazer V, Coffey R. A family study of craniosynostosis, with probable recognition of a distinct syndrome. J Med Genet 1982;19:280-5.","journal-title":"J Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.26.8.522","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:37:04Z","timestamp":1760726224000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.26.8.522"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,8]]},"references-count":8,"journal-issue":{"issue":"8","published-online":{"date-parts":[[1989,8,1]]},"published-print":{"date-parts":[[1989,8]]}},"alternative-id":["10.1136\/jmg.26.8.522"],"URL":"https:\/\/doi.org\/10.1136\/jmg.26.8.522","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1989,8]]}}}