{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:17:44Z","timestamp":1760782664231},"reference-count":39,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[1980,12,1]],"date-time":"1980-12-01T00:00:00Z","timestamp":344476800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[1980,12]]},"DOI":"10.1007\/bf00295694","type":"journal-article","created":{"date-parts":[[2004,10,24]],"date-time":"2004-10-24T11:30:45Z","timestamp":1098617445000},"page":"195-204","source":"Crossref","is-referenced-by-count":20,"title":["The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes"],"prefix":"10.1007","volume":"56","author":[{"given":"Zbyslaw","family":"Kopy\u015b\u0107","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Sta\u0144ska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00f3zef","family":"Ry\u017cko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bronislawa","family":"Kulczyk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"BF00295694_CR1","first-page":"1310","volume":"23","author":"E Apert","year":"1906","unstructured":"Apert E (1906) De l'acroc\u00e8phalosyndactylie. Bull Soc Med Hop Paris 23:1310\u20131313","journal-title":"Bull Soc Med Hop Paris"},{"key":"BF00295694_CR2","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/S0022-3476(70)80334-1","volume":"77","author":"CS Bartsocas","year":"1970","unstructured":"Bartsocas CS, Weber AL, Crawford JD (1970) Acrocephalosyndactyly typy III: Chotzen's syndrome. J Pediatr 77:267\u2013277","journal-title":"J Pediatr"},{"key":"BF00295694_CR3","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1111\/j.1469-1809.1959.tb01728.x","volume":"24","author":"CE Blank","year":"1960","unstructured":"Blank CE (1960) Apert's syndrome (a type of acrocephalosyndactyly): Observations on a British series of thirty-nine cases. Ann Hum Genet 24:151\u2013163","journal-title":"Ann Hum Genet"},{"key":"BF00295694_CR4","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1016\/S0007-1226(68)80071-2","volume":"21","author":"RC Buchanan","year":"1968","unstructured":"Buchanan RC (1968) Acrocephalosyndactyly or Apert's syndrome. Br J Plast Surg 21:406\u2013418","journal-title":"Br J Plast Surg"},{"key":"BF00295694_CR5","first-page":"97","volume":"55","author":"F Chotzen","year":"1932","unstructured":"Chotzen F (1932) Eine eigenartige famili\u00e4re Entwicklungsst\u00f6rung (Akrocephalosyndaktylie, Dysostosis craniofacialis and Hypertelorismus). Monatsschr Kinderheilk 55:97\u2013122","journal-title":"Monatsschr Kinderheilk"},{"key":"BF00295694_CR6","first-page":"136","volume":"11","author":"MM Cohen","year":"1975","unstructured":"Cohen MM (1975) An etiologic and nasologic overview of craniosynostosis syndromes. Birth Defects 11:136\u2013189","journal-title":"Birth Defects"},{"key":"BF00295694_CR7","first-page":"791","volume":"29","author":"KU Degenhardt","year":"1950","unstructured":"Degenhardt KU (1950) Zum entwicklungsmechanischen Problem der Akrocephalosyndaktylie. Z Menschl Vereb Konstitutionslehre 29:791\u2013802","journal-title":"Z Menschl Vereb Konstitutionslehre"},{"key":"BF00295694_CR8","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1001\/archpedi.1970.02100090134019","volume":"120","author":"WE Dodson","year":"1970","unstructured":"Dodson WE, Museles M, Kennedy JL, Al-Aish M (1970) Acrocephalosyndactylia associated with a chromosomal translocation. Am J Dis Child 120:360\u2013363","journal-title":"Am J Dis Child"},{"key":"BF00295694_CR9","first-page":"88","volume":"4","author":"G Dolivo","year":"1955","unstructured":"Dolivo G, Gillieron JC (1955) Une famille de Crouzon fruste ou Pseudo-crouzon. J Genet Hum 4:88","journal-title":"J Genet Hum"},{"key":"BF00295694_CR10","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1111\/j.1399-0004.1977.tb00920.x","volume":"12","author":"V Escobar","year":"1977","unstructured":"Escobar V, Bixler D (1977) On the classification of the acrocephalosyndactyly syndromes. Clin Genet 12:169\u2013178","journal-title":"Clin Genet"},{"key":"BF00295694_CR11","first-page":"534","volume":"151","author":"I Hammar","year":"1967","unstructured":"Hammar I, Roggenkamp K (1967) Augenver\u00e4nderungen bei Dysplasia renofacialic (Potter-Syndrom). Klin Monatbl Augenheilkd 151:534\u2013539","journal-title":"Klin Monatbl Augenheilkd"},{"key":"BF00295694_CR12","first-page":"39","volume":"5","author":"J Herrmann","year":"1969","unstructured":"Herrmann J, Opitz JM (1969) An unusual form of acrocephalosyndactyly. Birth Defects 5:39","journal-title":"Birth Defects"},{"key":"BF00295694_CR13","first-page":"45","volume":"66","author":"J Herrmann","year":"1969","unstructured":"Herrmann J, Pallister PD, Opitz JM (1969) Craniosynostosis and craniosynostosis syndromes. Rocky Mount Med J 66:45","journal-title":"Rocky Mount Med J"},{"key":"BF00295694_CR14","doi-asserted-by":"crossref","first-page":"878","DOI":"10.2106\/00004623-197052050-00003","volume":"52","author":"GH Hoover","year":"1970","unstructured":"Hoover GH, Flatt AE, Weiss MW (1970) The hand and Apert's syndrome. J Bone Jt Surg [Am] 52: 878\u2013898","journal-title":"J Bone Jt Surg [Am]"},{"key":"BF00295694_CR15","volume-title":"Illustrated dictionary of eponymic syndromes and their synonyms","author":"S Jablonsky","year":"1969","unstructured":"Jablonsky S (1969) Illustrated dictionary of eponymic syndromes and their synonyms. Saunders, Philadelphia London Toronto"},{"key":"BF00295694_CR16","first-page":"473","volume":"49","author":"M Krawczy\u0144ski","year":"1974","unstructured":"Krawczy\u0144ski M, Socha J, Sta\u0144ska M (1974) Apert's syndrome (Acrocephalosyndaktylie) in a girl aged 6 years. Pediatr Pol 49:473\u2013477","journal-title":"Pediatr Pol"},{"key":"BF00295694_CR17","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1002\/tera.1420060306","volume":"6","author":"S Kreigborg","year":"1972","unstructured":"Kreigborg S, Pruzansky S, Pashayan H (1972) The Saethre-Chotzen syndrome. Teratology 6:287\u2013294","journal-title":"Teratology"},{"key":"BF00295694_CR18","volume-title":"Die klinischen Syndrome, Vol 1","author":"B Leiber","year":"1972","unstructured":"Leiber B, Olbrich G (1972) Die klinischen Syndrome, Vol 1. Urbach-Schwarzenberg, M\u00fcnchen Berlin Wien"},{"key":"BF00295694_CR19","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1007\/BF00438375","volume":"79","author":"W Lenz","year":"1957","unstructured":"Lenz W (1957) Zur Diagnose und:Atiologie der Akrocephalosyndaktylie. Kinderheilk 79:546\u2013558","journal-title":"Z Kinderheilk"},{"key":"BF00295694_CR20","volume-title":"Mendelian inheritance in man","author":"VA McKusick","year":"1968","unstructured":"McKusick VA (1968) Mendelian inheritance in man. John Hopkins, Baltimore"},{"key":"BF00295694_CR21","volume-title":"Mendelian inheritance in man","author":"VA McKusick","year":"1971","unstructured":"McKusick VA (1971) Mendelian inheritance in man. John Hopkins, Baltimore"},{"key":"BF00295694_CR22","volume-title":"Mendelian inheritance in man","author":"VA McKusick","year":"1975","unstructured":"McKusick VA (1975) Mendelian inheritance in man. John Hopkins, Baltimore"},{"key":"BF00295694_CR23","first-page":"191","volume":"11","author":"OA Pantke","year":"1975","unstructured":"Pantke OA, Cohen MM, Witkop CJ, Feingold M, Schaumann B, Pantke HC, Gorlin RJ (1975) The Saethre-Chotzen syndrome. Birth Defects 11:191\u2013225","journal-title":"Birth Defects"},{"key":"BF00295694_CR24","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1007\/BF00447500","volume":"90","author":"RA Pfeiffer","year":"1964","unstructured":"Pfeiffer RA (1964) Dominant erbliche Akrocephalosyndaktylie. Z Kinderheilk 90:301\u2013320","journal-title":"Z Kinderheilk"},{"key":"BF00295694_CR25","first-page":"18","volume":"5","author":"RA Pfeiffer","year":"1969","unstructured":"Pfeiffer RA (1969) Associated deformities of the head and hands. Births Defects 5:18\u201334","journal-title":"Births Defects"},{"key":"BF00295694_CR26","first-page":"262","volume":"7","author":"KB Roberts","year":"1975","unstructured":"Roberts KB, Hall JG (1975) Apert's acrocephalosyndactyly in mother and daughter: Cleft palate in the mother. Birth Defects 7:262\u2013264","journal-title":"Birth Defects"},{"key":"BF00295694_CR27","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1007\/BF01673869","volume":"117","author":"H Saethre","year":"1931","unstructured":"Saethre H (1931) Ein Beitrag zum Turmsch\u00e4delproblem. Pathogenese, Erblichkeit und Symptomatologie. Dtsch Z Nervenheilk 117:533\u2013555","journal-title":"Dtsch Z Nervenheilk"},{"key":"BF00295694_CR28","first-page":"322","volume":"114","author":"H Sch\u00f6nenberg","year":"1966","unstructured":"Sch\u00f6nenberg H, Scheidhauer E (1966) \u00dcder zwei ungew\u00f6hnliche Dyscranio-Dysphalangien bei Geschwistern (Atypische Akrocephalosyndaktylie) und fragliche Dysencephalia splanchocystica. Monatschr Kinderheilk 114:322\u2013327","journal-title":"Monatschr Kinderheilk"},{"key":"BF00295694_CR29","first-page":"12","volume":"120","author":"H Sch\u00f6nenberg","year":"1972","unstructured":"Sch\u00f6nenberg H (1972) Akrocephalosyndaktylie \u2014 Apert Syndrom. Monatsschr Kinderheilk 120:12\u201316","journal-title":"Monatsschr Kinderheilk"},{"key":"BF00295694_CR30","first-page":"914","volume":"23","author":"K Sobotkowski","year":"1962","unstructured":"Sobotkowski K, Kasperska I (1962) Crouzon-Apert syndrome. Case report. Pol Tyg Lek 23:914\u2013917","journal-title":"Pol Tyg Lek"},{"key":"BF00295694_CR31","volume-title":"Bone dysplasias","author":"JW Spranger","year":"1974","unstructured":"Spranger JW, Langer LO, Wiedemann HR (1974) Bone dysplasias. Fischer, Stuttgart"},{"key":"BF00295694_CR32","first-page":"35","volume":"5","author":"RL Summitt","year":"1969","unstructured":"Summitt RL (1969) Recessive acrocephalosyndactyly with normal intelligence. Birth Defects 5:35\u201338","journal-title":"Birth Defects"},{"key":"BF00295694_CR33","first-page":"274","volume":"69","author":"J Szlazak","year":"1953","unstructured":"Szlazak J (1953) Treacher Collins syndrome. Can Med Assoc J 69:274","journal-title":"Can Med Assoc J"},{"key":"BF00295694_CR34","first-page":"125","volume":"5","author":"SA Temtamy","year":"1969","unstructured":"Temtamy SA, McKusick VA (1969) Synopsis of hand malformations with particular emphasis on genetic factors. Birth Defects 5:125","journal-title":"Birth Defects"},{"key":"BF00295694_CR35","first-page":"29","volume":"92","author":"A Vogt","year":"1933","unstructured":"Vogt A (1933) Dyskephalie (Dysostosis craniofacialis, maladie de Crouzon 1912) und eine neuartige Kombination dieser Krankheit mit Syndaktylie der vier Extremit\u00e4ten (Dyscephalodaktylie). Klin Monatsbl Augenheilk 92:29\u201344","journal-title":"Klin Monatsbl Augenheilk"},{"key":"BF00295694_CR36","first-page":"29","volume":"92","author":"PJ Waardenburg","year":"1934","unstructured":"Waardenburg PJ (1934) Eine merkw\u00fcrdige Kombination von angeborenen Mi\u00dfbildungen: Doppelseitiger Hydrophthalmus verbunden mit Akrocephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen. Klin Monatsbl Augenheilk 92:29\u201344","journal-title":"Klin Monatsbl Augenheilk"},{"key":"BF00295694_CR37","first-page":"1700","volume":"78","author":"PJ Waardenburg","year":"1934","unstructured":"Waardenburg PJ (1934) Vershillende torenschedelvorden en daarbij voorkomende oogkas \u2014 en oogverschijnselen. Ned Tijdschr Geneeskd 78:1700\u20131712","journal-title":"Ned Tijdschr Geneeskd"},{"key":"BF00295694_CR38","volume-title":"Genetics and Opthalmology, Vol 1","author":"PJ Waardenburg","year":"1961","unstructured":"Waardenburg PJ, Franceschetti A, Klein D (1961) Genetics and Opthalmology, Vol 1. Thomas, Springfield"},{"key":"BF00295694_CR39","first-page":"47","volume":"25","author":"H Wieteska","year":"1961","unstructured":"Wieteska H (1961) Crouzon-Apert syndrome (dysostosis cranio-digito-facialis). Pol Przeg Radiol Med Nukl 25:47\u201358","journal-title":"Pol Przeg Radiol Med Nukl"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00295694.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF00295694\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF00295694","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,4,8]],"date-time":"2019-04-08T20:12:24Z","timestamp":1554754344000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF00295694"}},"subtitle":["Observations of three cases in one family"],"short-title":[],"issued":{"date-parts":[[1980,12]]},"references-count":39,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1980,12]]}},"alternative-id":["BF00295694"],"URL":"https:\/\/doi.org\/10.1007\/bf00295694","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[1980,12]]}}}