{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T11:54:06Z","timestamp":1792151646064,"version":"4.4.0"},"reference-count":65,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1977,12]]},"abstract":"<jats:p content-type=\"fine-print\">\u2713 Thirty-seven syndromes in which craniosynostosis is a feature are presented in tabular form, allowing the clinician to rapidly identify a given syndrome and gain immediate access to the pertinent literature. A plea is made to delineate unknown genesis syndromes with craniosynostosis as rapidly as possible. As an unknown genesis syndrome becomes delineated, its phenotypic spectrum, its natural history, and its inheritance pattern or risk of recurrence become known, allowing for better patient care and family counseling.<\/jats:p>","DOI":"10.3171\/jns.1977.47.6.0886","type":"journal-article","created":{"date-parts":[[2009,5,7]],"date-time":"2009-05-07T15:17:16Z","timestamp":1241709436000},"page":"886-898","source":"Crossref","is-referenced-by-count":50,"title":["Genetic perspectives on craniosynostosis and syndromes with craniosynostosis"],"prefix":"10.3171","volume":"47","author":[{"given":"M. Michael","family":"Cohen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1754","reference":[{"key":"b1","series-title":"Odont T","first-page":"472","article-title":"Et tilfaelde af total \u201cpseudo-anodonti\u201d; forbingelse med Kraniedeformitet, draergvaekst og e Ktodermal dysplasi.","volume":"55","author":"Andersen","year":"1947"},{"key":"b2","series-title":"J Neurosurg","doi-asserted-by":"publisher","first-page":"229","DOI":"10.3171\/jns.1965.22.3.0229","article-title":"Craniosynostosis: a survey of 204 cases.","volume":"22","author":"Anderson","year":"1965"},{"key":"b3","series-title":"Acta Paediatr Scand","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1111\/j.1651-2227.1968.tb07285.x","article-title":"Craniosynostosis: review of the literature and indications for surgery.","volume":"57","author":"Andersson","year":"1968"},{"issue":"2","key":"b4","series-title":"Birth Defects","first-page":"397","article-title":"A-Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures.","volume":"11","author":"Antley","year":"1975"},{"key":"b5","series-title":"J Genet Hum","first-page":"121","article-title":"On the inheritance of craniostenosis. Study of thirteen families.","volume":"18","author":"Armendares","year":"1970"},{"key":"b6","series-title":"J Pediatr","doi-asserted-by":"publisher","first-page":"872","DOI":"10.1016\/S0022-3476(74)80367-7","article-title":"A newly recognized inherited syndrome of dwarfism, craniosynostosis, retinis pigmentosa, and multiple congenital malformations.","volume":"85","author":"Armendares","year":"1974"},{"key":"b7","series-title":"J Neurosurg","doi-asserted-by":"publisher","first-page":"239","DOI":"10.3171\/jns.1961.18.2.0239","article-title":"Familial scaphocephaly.","volume":"18","author":"Bell","year":"1961"},{"key":"b8","series-title":"J Pediatr","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1016\/S0022-3476(73)80321-X","article-title":"Radioulnar synostosis and craniosynostosis in one family.","volume":"83","author":"Berant","year":"1973"},{"key":"b9","series-title":"Acta Ophthalmol (Suppl)","first-page":"1","article-title":"The premature synostosis of the cranial sutures.","volume":"51","author":"Bertelsen"},{"key":"b10","series-title":"Q J Med","doi-asserted-by":"publisher","first-page":"171","DOI":"10.1093\/qjmed\/15.59.171","article-title":"Craniofacial dysostosis: the significance of ocular hypertelorism.","volume":"15","author":"Brown","year":"1946"},{"key":"b11","author":"Christian","year":"1975"},{"key":"b12","series-title":"Clin Genet","first-page":"95","article-title":"The adducted thumbs syndrome. An autosomal recessive disease with arthrogyposis, dysmyelination, craniostenosis, and cleft palate.","volume":"2","author":"Christian","year":"1971"},{"key":"b13","series-title":"J Maxillofacial Surg","article-title":"Ocular hypertelorism and syndromes with ocular hypertelorism.","author":"Cohen"},{"key":"b14","series-title":"The Cranial Base.","article-title":"The cloverleaf skull malformation","author":"Cohen"},{"issue":"2","key":"b15","series-title":"Birth Defects","first-page":"137","article-title":"An etiologic and nosologic overview of craniosynostosis syndromes.","volume":"11","author":"Cohen","year":"1975"},{"key":"b16","series-title":"Am J Dis Child","first-page":"944","article-title":"The Kleeblattsch\u00e4del phenomenon: sign or syndrome?","volume":"124","author":"Cohen","year":"1972"},{"key":"b17","series-title":"J Pediatr","doi-asserted-by":"publisher","first-page":"1037","DOI":"10.1016\/S0022-3476(69)80343-4","article-title":"Craniosynostosis in the Amish.","volume":"75","author":"Cross","year":"1969"},{"key":"b18","series-title":"J Ment Sci","first-page":"704","article-title":"An instance of familial scaphocephaly.","volume":"75","author":"Duguid","year":"1929"},{"issue":"3","key":"b19","series-title":"Birth Defects","first-page":"53","article-title":"Acrocephalopolydactylous dysplasia.","volume":"13","author":"Elejalde","year":"1977"},{"key":"b20","series-title":"An Atlas of General Affections of the Skeleton.","author":"Fairbanks","year":"1951"},{"key":"b21","series-title":"J Neurosurg","doi-asserted-by":"publisher","first-page":"307","DOI":"10.3171\/jns.1949.6.4.0307","article-title":"Classification of craniostenosis.","volume":"6","author":"Fairman","year":"1949"},{"key":"b22","series-title":"Syndrome Ident","first-page":"21","article-title":"The demise of a syndrome?","volume":"1","author":"Feingold","year":"1973"},{"key":"b23","series-title":"Pediatrics","first-page":"57","article-title":"Craniostenosis. Review of the literature and report of thirty-four cases.","volume":"30","author":"Freemen","year":"1962"},{"key":"b24","series-title":"Arch Fr Pediatr","first-page":"775","article-title":"Les craniosynostoses (\u00e9tude de vingt observations).","volume":"24","author":"Gaudier","year":"1967"},{"key":"b25","series-title":"Pediatrie","first-page":"695","article-title":"[Familial craniostenosis.]","volume":"15","author":"Gillot","year":"1960"},{"key":"b26","series-title":"Br Med J","doi-asserted-by":"publisher","first-page":"792","DOI":"10.1136\/bmj.2.5155.792","article-title":"Craniostenosis.","volume":"2","author":"Gordon","year":"1959"},{"key":"b27","series-title":"J Pediatr","doi-asserted-by":"publisher","first-page":"778","DOI":"10.1016\/S0022-3476(60)80315-0","article-title":"Craniofacial dysostosis patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies.","volume":"56","author":"Gorlin","year":"1960"},{"key":"b28","series-title":"Edinburgh Med J","first-page":"189","article-title":"Oxycephaly.","volume":"33","author":"Greig","year":"1926"},{"key":"b29","series-title":"J Pediatr","doi-asserted-by":"publisher","first-page":"526","DOI":"10.1016\/S0022-3476(72)80526-2","article-title":"Kleeblattsch\u00e4del (Cloverleaf) syndrome: severe form of Crouzon's disease?","volume":"80","author":"Hall","year":"1972"},{"key":"b30","author":"Hall","year":"1974"},{"issue":"3","key":"b31","series-title":"Birth Defects","first-page":"39","article-title":"An unusual form of acrocephalosyndactyly.","volume":"5","author":"Herrmann","year":"1969"},{"key":"b32","series-title":"Rocky Mtn Med J","first-page":"45","article-title":"Craniosynostosis and craniosynostosis syndromes.","volume":"66","author":"Herrmann","year":"1969"},{"key":"b33","series-title":"Z Kinderheilkd","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1007\/BF00443563","article-title":"Studies of malformation syndromes in man XXXVI: The Pfeiffer syndrome, association with Kleeblattsch\u00e4del and multiple visceral anomalies. Case report and review.","volume":"119","author":"Hodach","year":"1975"},{"key":"b34","series-title":"Clin Genet","first-page":"128","article-title":"Familial polysyndactyly and craniofacial anomalies.","volume":"3","author":"Hootnick","year":"1972"},{"key":"b35","series-title":"Am J Ophthalmol","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1016\/0002-9394(54)91765-1","article-title":"The craniostenoses.","volume":"37","author":"Howell","year":"1954"},{"key":"b36","series-title":"Can Med Assoc J","first-page":"397","article-title":"Oxycephaly with the report of two cases in a brother and sister.","volume":"34","author":"Klein","year":"1936"},{"key":"b37","article-title":"An anatomic and histologic study of two cloverleaf skull specimens","author":"Kokich"},{"key":"b38","series-title":"Am J Ophthalmol","first-page":"380","article-title":"Craniostenosis. Report of 22 cases.","volume":"37","author":"Koziak","year":"1954"},{"key":"b39","series-title":"Ann Paediatr Fenn","article-title":"Craniosynostosis. Premature fusion of the cranial sutures. An experiment, clinical and histological investigation with particular reference to the pathogenesis and etiology of the disease.","author":"Laitinen","year":"1956"},{"key":"b40","series-title":"Normal and Abnormal Development of the Human Nervous System.","first-page":"303","author":"Lemire","year":"1975"},{"key":"b41","series-title":"J Med Genet","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1136\/jmg.9.2.227","article-title":"Congenital absence of the fibula and craniosynostosis in sibs.","volume":"9","author":"Lowry","year":"1972"},{"key":"b42","series-title":"J Pediatr","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1016\/S0022-3476(64)80188-8","article-title":"Congenital anomalies in the newborn infant, including minor variations.","volume":"64","author":"Marden","year":"1964"},{"key":"b43","series-title":"Hum Genet","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1007\/BF00295627","article-title":"Chromosome? Short arm deletion and craniosynostosis. A 7p\u2212 syndrome.","volume":"35","author":"McPherson","year":"1976"},{"key":"b44","series-title":"US Armed Forces Med J","first-page":"1496","article-title":"Familial scaphocephaly in father and son.","volume":"4","author":"Murphy","year":"1953"},{"key":"b45","series-title":"Science","doi-asserted-by":"publisher","first-page":"692","DOI":"10.1126\/science.155.3763.692","article-title":"Autosomal deletion mapping in man.","volume":"155","author":"Nance","year":"1967"},{"key":"b46","series-title":"Eur J Pediatr","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1007\/BF00497676","article-title":"A craniosynostosis \u2014 craniofacial dysostosis syndrome with mental retardation and other malformations: \u201cCraniofacial Dyssynostosis.\u201d","volume":"123","author":"Neuh\u00e4user","year":"1976"},{"issue":"2","key":"b47","series-title":"Birth Defects","first-page":"1","article-title":"The study of malformation syndromes in man.","volume":"5","author":"Opitz","year":"1969"},{"key":"b48","series-title":"Z Kinderheilkd","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/BF00439020","article-title":"Studies of malformation syndromes of man 33: The FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation.","volume":"117","author":"Opitz","year":"1974"},{"issue":"5","key":"b49","series-title":"Birth Defects","first-page":"191","article-title":"A partial trisomy 5p syndrome.","volume":"11","author":"Opitz","year":"1975"},{"key":"b50","series-title":"Humangenetik","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1007\/BF00273945","article-title":"The syndrome associated with the partial D-monosomy. Case report and review.","volume":"13","author":"Orbeli","year":"1971"},{"issue":"2","key":"b51","series-title":"Birth Defects","first-page":"190","article-title":"The Saethre-Chotzen syndrome.","volume":"11","author":"Pantke","year":"1975"},{"key":"b52","series-title":"Arch Dis Child","doi-asserted-by":"publisher","first-page":"656","DOI":"10.1136\/adc.46.249.656","article-title":"Cloverleaf skull and thanatophoric dwarfism. Report of four cases, two in the same sibship.","volume":"46","author":"Partington","year":"1971"},{"key":"b53","author":"Pederson","year":"1975"},{"issue":"1","key":"b54","series-title":"Syndrome Ident","first-page":"27","article-title":"Kleeblattsch\u00e4del anomaly \u2014 which one?","volume":"2","author":"Pena","year":"1974"},{"key":"b55","series-title":"J Pediatr","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1016\/S0022-3476(71)80066-5","article-title":"A new syndrome with acrocephalopolysyndactyly, cardiac disease, and distinctive defects of the ear, skin, and lower limbs.","volume":"79","author":"Sakati","year":"1971"},{"key":"b56","series-title":"Z Kinderheilkd","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1007\/BF00442268","article-title":"Beitrag rum Kleeblattsch\u00e4del-Syndrom.","volume":"109","author":"Schuch","year":"1971"},{"key":"b57","series-title":"Am J Dis Child","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1001\/archpedi.1968.02100010479013","article-title":"Aminopterin-induced fetal malformation. Survival of an infant after attempted abortion.","volume":"115","author":"Shaw","year":"1968"},{"key":"b58","series-title":"Proc R Soc Med","first-page":"574","article-title":"Hereditary and familial oxycephaly.","volume":"24","author":"Sheldon","year":"1931"},{"key":"b59","series-title":"Pediatrics","first-page":"107","article-title":"Craniofacial dysostosis of Crouzon; a case report and pedigree with emphasis on heredity.","volume":"23","author":"Shiller","year":"1959"},{"key":"b60","series-title":"Pediatrics","doi-asserted-by":"publisher","first-page":"829","DOI":"10.1542\/peds.41.4.829","article-title":"Craniosynostosis: A review of 519 surgical patients.","volume":"41","author":"Shillito","year":"1968"},{"key":"b61","series-title":"J Pediatr","doi-asserted-by":"publisher","first-page":"528","DOI":"10.1016\/S0022-3476(47)80142-8","article-title":"Premature closure of the cranial sutures.","volume":"31","author":"Simmons","year":"1947"},{"key":"b62","series-title":"Birth Defects","first-page":"309","author":"Smith","year":"1974"},{"issue":"3","key":"b63","series-title":"Birth Defects","first-page":"35","article-title":"Recessive acrocephalosyndactyly with normal intelligence.","volume":"5","author":"Summitt","year":"1969"},{"key":"b64","series-title":"Verh Pffys Med Ges Wurzburg","first-page":"230","article-title":"\u00dcber den cretinismus namentlich in Franken und \u00fcber pathologische Sch\u00e4del formen.","volume":"2","author":"Virchow","year":"1851"},{"key":"b65","series-title":"Klin Monatsbl Augenheilkd","first-page":"29","article-title":"Eine merkw\u00fcrdige Kombination van angeborenen Missbildungen: doppelseitiger Hydrophthalamus verbunden mit Akrokephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen abweichungen.","volume":"92","author":"Waardenburg","year":"1934"}],"container-title":["Journal of Neurosurgery"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg\/47\/6\/article-p886.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg\/47\/6\/article-p886.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg\/47\/6\/article-p886.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,10,23]],"date-time":"2022-10-23T13:35:06Z","timestamp":1666532106000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg\/47\/6\/article-p886.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1977,12]]},"references-count":65,"journal-issue":{"issue":"6"},"URL":"https:\/\/doi.org\/10.3171\/jns.1977.47.6.0886","relation":{},"ISSN":["0022-3085"],"issn-type":[{"value":"0022-3085","type":"print"}],"subject":[],"published":{"date-parts":[[1977,12]]}}}