{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T22:10:57Z","timestamp":1760739057887,"version":"build-2065373602"},"reference-count":12,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1973,3]]},"abstract":"<jats:p>Craniofacial dysostosis, the Crouzon syndrome, occurs sporadically and in families; the clearly heritable form up to now has been autosomal dominant. We ascertained two similarly affected sibs, a brother and a sister, in a sibship of nine. Neither the Negro parents nor any ancestors nor collateral relatives were similarly affected. The parents were not consanguineous. After excluding other genetic and environmental explanations, we concluded that the reasonably typical findings of the disorder in the two sibs were probably genetically determined by a single, autosomal recessive gene.<\/jats:p>","DOI":"10.1136\/jmg.10.1.89","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"89-94","source":"Crossref","is-referenced-by-count":16,"title":["An Autosomal Recessive Form of Craniofacial Dysostosis (The Crouzon Syndrome)"],"prefix":"10.1136","volume":"10","author":[{"given":"Richard C.","family":"Juberg","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sue R.","family":"Chambers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1973,3,1]]},"reference":[{"issue":"2","key":"ref_1","first-page":"82","article-title":"Familial telecanthus with associated congenital anomalies. Birth Defects: Original Article","volume":"5","author":"Christian, J.C.; Bixler, D.; Blythe, S.C.; Merritt, A.D.","year":"1969","unstructured":"Christian, J. C., Bixler, D., Blythe, S. C., and Merritt, A. D. (1969). Familial telecanthus with associated congenital anomalies. Birth Defects: Original Article Series, 5, pt. 2, pp. 82-85. National Foundation-March of Dimes, New York.","journal-title":"Series"},{"key":"ref_2","first-page":"23","article-title":"Craniofacial dysostosis: Crouzon's disease","author":"Dodge, Jr., H.W.; Wood, M.W.; Kennedy, R.L.J.","year":"1959","unstructured":"Dodge, H. W., Jr., Wood, M. W., and Kennedy, R. L. J. (1959). Craniofacial dysostosis: Crouzon's disease. Pediatrics, 23,98-106.","journal-title":"Pediatrics"},{"key":"ref_3","first-page":"90","article-title":"Cranio-facial dysostosis of Crouzon Report of a case in which the malformation occurred in four generations","volume":"5","author":"Flippen, Jr, J.H.","year":"1950","unstructured":"Flippen, J. H., Jr. (1950). Cranio-facial dysostosis of Crouzon Report of a case in which the malformation occurred in four generations. Pediatrics, 5, 90-96.","journal-title":"Pediatrics"},{"key":"ref_4","article-title":"Dysostose cranienne avec calotte cerebrigene may be impenetrant","author":"Franceschetti, A.","year":"1953","unstructured":"Franceschetti, A. (1953). Dysostose cranienne avec calotte cerebrigene may be impenetrant."},{"key":"ref_5","first-page":"161","article-title":"Variable expressivity, because of the lack of any evidence that forme (Pseudo-Crouzon)","volume":"13","unstructured":"Variable expressivity, because of the lack of any evidence that forme (Pseudo-Crouzon). Confinia Neurologica, 13, 161-166.","journal-title":"Confinia Neurologica"},{"key":"ref_6","author":"Gorlin, R.J.; Pindborg, J.J.","year":"1964","unstructured":"Gorlin, R. J. and Pindborg, J. J. (1964). Syndromes of the Head and","journal-title":"Syndromes of the Head and"},{"key":"ref_7","first-page":"64","article-title":"Scaphocephaly in a brother and sister. An age, because of the failure to show exclusion by the unusual incidence of this form of premature synostosis of the skull bones","volume":"6","year":"1947","unstructured":"Extra-marital parent-Hilson, D. (1947). Scaphocephaly in a brother and sister. An age, because of the failure to show exclusion by the unusual incidence of this form of premature synostosis of the skull bones. Clinical Proceedings, 6, 64-70.","journal-title":"Clinical Proceedings"},{"key":"ref_8","first-page":"35","article-title":"Hereditary craniofacial dysplasia","author":"D.; Pinkerton, F.J.","year":"1952","unstructured":"D. and Pinkerton, F. J. (1952). Hereditary craniofacial dysplasia. American_Journal of Ophthalmology, 35,500-506.","journal-title":"American_Journal of Ophthalmology"},{"key":"ref_9","first-page":"107","article-title":"Craniofacial dysostosis of Crouzon. A case report and pedigree with emphasis on heredity","volume":"23","author":"Shiller, J.G.","year":"1959","unstructured":"Shiller, J. G. (1959). Craniofacial dysostosis of Crouzon. A case report and pedigree with emphasis on heredity. Pediatrics, 23, 107-112.","journal-title":"Pediatrics"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1136\/adc.41.218.375","article-title":"Cranio-facial dysostosis in a Dorset family","volume":"41","author":"Vulliamy, D.G.; Normandale, P.A.","year":"1966","unstructured":"Vulliamy, D. G. and Normandale, P. A. (1966). Cranio-facial dysostosis in a Dorset family. Archives of Disease in Childhood, 41, 375-382.","journal-title":"Archives of Disease in Childhood"},{"key":"ref_11","article-title":"The t(DqDq) Robertsonian translocation is one of the most common translocations that occurs in man (about 1: 1000, Hamerton","year":"1971","unstructured":"The t(DqDq) Robertsonian translocation is one of the most common translocations that occurs in man (about 1:1000, Hamerton, 1971). Cohen (1971) has compiled 64 cases of t(DqDq) individuals in whom the D group chromosomes composing the translocation have been identified by autoradiography. Forty-nine of the t(DqDq) chromosomes involved numbers 13 and 14, while only six were t(13ql5q), five t(13ql3q), three t(14ql5q), and one t(15ql5q). This report presents a family with a t(13ql5q) chromosome detected in six individuals and spanning three generations. The aberration was discovered when the patient described below was born and diagnosed as having trisomy D.","journal-title":"Cohen; has compiled 64 cases of t(DqDq) individuals in whom the D group chromosomes composing the translocation have been identified by autoradiography. Forty-nine of the t(DqDq) chromosomes involved numbers 13 and 14, while only six were t(13ql5q), five t(13ql3q), three t(14ql5q), and one t(15ql5q). This report presents a family with a t(13ql5q) chromosome detected in six individuals and spanning three generations. The aberration was discovered when the patient described below was born and diagnosed as having trisomy D"},{"article-title":"Case Report The proposita was a premature infant, birth weight 2170 g, bom to a 30-year-old gravida IV, para III, abortus I, whose prenatal course was unremarkable. Labour and spontaneous delivery were uncomplicated. There had been no history of drug intake, radiology, or illness in the mother throughout gestation. At birth (Fig. 1) the infant was noted to have an ulcerated area in midline of her scalp overlying a bony defect or third Received 18 September 1972. * This work was supported in part by a research grant (AM-02504) from the National Institute of Arthritis and Metabolic Diseases, US Public Health Service and by a grant from the Birth Defects","author":"Institute, New York State Department of Health, Albany, NY","key":"ref_12","unstructured":"Case Report The proposita was a premature infant, birth weight 2170 g, bom to a 30-year-old gravida IV, para III, abortus I, whose prenatal course was unremarkable. Labour and spontaneous delivery were uncomplicated. There had been no history of drug intake, radiology, or illness in the mother throughout gestation. At birth (Fig. 1) the infant was noted to have an ulcerated area in midline of her scalp overlying a bony defect or third Received 18 September 1972. * This work was supported in part by a research grant (AM-02504) from the National Institute of Arthritis and Metabolic Diseases, US Public Health Service and by a grant from the Birth Defects Institute, New York State Department of Health, Albany, NY."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.10.1.89","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:55:08Z","timestamp":1760738108000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.10.1.89"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1973,3]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1973,3,1]]},"published-print":{"date-parts":[[1973,3]]}},"alternative-id":["10.1136\/jmg.10.1.89"],"URL":"https:\/\/doi.org\/10.1136\/jmg.10.1.89","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1973,3]]}}}