{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T05:11:31Z","timestamp":1759727491496,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1974,6]]},"abstract":"<jats:p>A case is presented which may represent a fresh mutation with craniofacial characteristics of Crouzon's syndrome and skeletal abnormalities suggestive of Carpenter's syndrome together with mild skin syndactyly.<\/jats:p>","DOI":"10.1136\/jmg.11.2.206","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"206-208","source":"Crossref","is-referenced-by-count":2,"title":["A sporadic case of apparent Crouzon's syndrome with extracraniofacial manifestations"],"prefix":"10.1136","volume":"11","author":[{"given":"M. A.","family":"Leonard","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1974,6,1]]},"reference":[{"key":"ref_1","first-page":"110","article-title":"Two sisters showing malformations of-the skull and other congenital abnormalities. Report of the Society for the Study","volume-title":"of Disease in Children","volume":"1","author":"Carpenter, G.","year":"1901","unstructured":"Carpenter, G. (1901). Two sisters showing malformations of-the skull and other congenital abnormalities. Report of the Society for the Study of Disease in Children, 1, 110-118."},{"key":"ref_2","first-page":"55","article-title":"Eine eigenartige familiare Entwicklungsstorung (Akrocephalosyndaktylie Dysostosis Craniofacialis und","author":"Chotzen, F.","year":"1932","unstructured":"Chotzen, F. (1932\/1933). Eine eigenartige familiare Entwicklungsstorung (Akrocephalosyndaktylie Dysostosis Craniofacialis und Hypertelorismus). Monatsschrift fur Kinderheilkunde, 55,97-122."},{"key":"ref_3","first-page":"545555","article-title":"Dysostose crano-faciale hereditaire. Bulletin Memoires de la Socidtd Midicale des Hdpitaux de","volume":"33","author":"Crouzon, 0","year":"1912","unstructured":"Crouzon, 0. (1912). Dysostose crano-faciale hereditaire. Bulletin Memoires de la Socidtd Midicale des Hdpitaux de Paris, 33, 545555.","journal-title":"Paris"},{"issue":"2","key":"ref_4","first-page":"1","article-title":"Das Gehororgan bei den angeborenen Kopfmissbildungen","volume":"10","author":"Nager, F.R.; de Reynier, J.P.","year":"1948","unstructured":"Nager, F. R. and de Reynier, J. P. (1948). Das Gehororgan bei den angeborenen Kopfmissbildungen. Practica Oto-rhino-laryngologica, 10 Suppl. 2, 1-128.","journal-title":"Practica Oto-rhino-laryngologica"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1007\/BF01673869","article-title":"Ein Beitrag zum Tarmschadelproblem (pathogenese Erblichkeit und Symtomatologie)","volume":"119","author":"Saethre, H.","year":"1931","unstructured":"Saethre, H. (1931). Ein Beitrag zum Tarmschadelproblem (pathogenese Erblichkeit und Symtomatologie). Deutsche Zeitschrift fUr Nervenheilkunde, 119, 533-555.","journal-title":"Deutsche Zeitschrift fUr Nervenheilkunde"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/S0022-3476(66)80368-2","article-title":"Carpenter's syndrome. Acrocephalosyndactyly. An autosomal recessive syndrome","volume":"69","author":"Temtamy, S.A.","year":"1966","unstructured":"Temtamy, S. A. (1966). Carpenter's syndrome. Acrocephalosyndactyly. An autosomal recessive syndrome. Journal of Pediatrics, 69, 111-120.","journal-title":"Journal of Pediatrics"},{"key":"ref_7","first-page":"441","article-title":"Dyskephalie (Dysostosis craniofacialis maladie de Crouzon 1912) und eine neuartige Kombination dieser Krankheit mit Syndaktylie der 4 Extermitaten","volume":"90","author":"Vogt, A.","year":"1933","unstructured":"Vogt, A. (1933). Dyskephalie (Dysostosis craniofacialis maladie de Crouzon 1912) und eine neuartige Kombination dieser Krankheit mit Syndaktylie der 4 Extermitaten (Dyskephalofaktylie). Klinische Monatsblatter fur Augenheilkunde, 90, 441-454."},{"key":"ref_8","article-title":"Large deletions of the Y chromosome resulting in small morphologically intact chromosomes with a centromere, give rise to a variety of phenotypic effects which have been described on at least six occasions","year":"1973","unstructured":"Large deletions of the Y chromosome resulting in small morphologically intact chromosomes with a centromere, give rise to a variety of phenotypic effects which have been described on at least six occasions. Telfer, Baker, and Rollin (1973) reported it in a boy of short stature; Meisner and Inhorn (1972) in a severely retarded man and his normal brother; Nakagome et al (1965) in a severely retarded boy; Muldal and Ockey (1962) described a family with muscular dystrophy and hypospadias; Vaharu et al (1961) reported a case of gonadal dysplasia in a 'female' with an enlarged phallus; and Lo and Kobernick (1965) found a deleted Y cell line in a Received 12 November 1973.","journal-title":"et al; reported it in a boy of short stature; Meisner and Inhorn (1972) in a severely retarded man and his normal brother; Nakagome et al"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.11.2.206","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:56:51Z","timestamp":1759726611000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.11.2.206"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1974,6]]},"references-count":8,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1974,6,1]]},"published-print":{"date-parts":[[1974,6]]}},"alternative-id":["10.1136\/jmg.11.2.206"],"URL":"https:\/\/doi.org\/10.1136\/jmg.11.2.206","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1974,6]]}}}