{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T17:21:54Z","timestamp":1790270514775,"version":"4.1.0"},"reference-count":6,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1976,6]]},"abstract":"<jats:p>We describe a female infant with the cervical vertebral fusion (Klippel-Feil) syndrome whom we recognized at birth because of her short neck, restriction of cervical movement, and low posterior hairline. X-ray examination showed anomalies of C1, and between C2-3 and C3-4; thus, we classified her as type II, with variable cervical fusion. At 24 months she was small and manifested hearing deficiency. The mother and father were consanguineous with five common ancestors four generations ago, which resulted in a coefficient of inbreeding equivalent to a second cousin relationship. The parents and grandparents were phenotypically normal, and the parents were radiologically normal. This form of the syndrome has previously been said to be autosomal dominant. Our conclusion of determination by a single autosomal recessive gene is evidence of genetic heterogeneity.<\/jats:p>","DOI":"10.1136\/jmg.13.3.246","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"246-249","source":"Crossref","is-referenced-by-count":36,"title":["Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents."],"prefix":"10.1136","volume":"13","author":[{"given":"R C","family":"Juberg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J J","family":"Gershanik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1976,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1136\/jmg.1.2.118","article-title":"Profound childhood deafness","volume":"1","author":"Fraser, G.R.","year":"1964","unstructured":"Fraser, G. R. (1964). Profound childhood deafness. journal of Medical Genetics, 1, 118-151.","journal-title":"journal of Medical Genetics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1097\/00005792-196711000-00003","article-title":"The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion","volume":"46","author":"Gunderson, C.H.; Greenspan, R.H.; Glaser, G.H.; Lubs, H.A.","year":"1967","unstructured":"Gunderson, C. H., Greenspan, R. H., Glaser, G. H., and Lubs, H. A. (1967). The Klippel-Feil syndrome: genetic and clinical reevaluation of cervical fusion. Medicine, 46, 491-512.","journal-title":"Medicine"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1017\/S0022215100070195","article-title":"Deafness and the KlippelFeil syndrome","volume":"83","author":"McLay, K.; Maran, A.G.D.","year":"1969","unstructured":"McLay, K. and Maran, A. G. D. (1969). Deafness and the KlippelFeil syndrome. Journal of Laryngology and Otology, 83, 175-184.","journal-title":"Journal of Laryngology and Otology"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1001\/archpedi.1972.02110090088009","article-title":"Klippel-Feil syndrome and deafness: a study with polytomography","volume":"123","author":"Palant, D.I.; Carter, B.L.","year":"1972","unstructured":"Palant, D. I. and Carter, B. L. (1972). Klippel-Feil syndrome and deafness: a study with polytomography. American Journal of Diseases of Children, 123, 218-221.","journal-title":"American Journal of Diseases of Children"},{"key":"ref_5","first-page":"47","article-title":"Congenital anomalies of the cervical spine","volume-title":"The Cervical Spine","author":"Poznanski, A.K.","year":"1974","unstructured":"Poznanski, A. K. (1974). Congenital anomalies of the cervical spine. In The Cervical Spine, pp. 47-90. Ed. by R. W. Bailey. Lea and Febiger, Philadelphia."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1001\/archotol.1973.00780010427016","article-title":"Klippel-Feil syndrome and associated hearing loss","volume":"97","author":"Stark, E.W.; Borton, T.E.","year":"1973","unstructured":"Stark, E. W. and Borton, T. E. (1973). Klippel-Feil syndrome and associated hearing loss. Archives of Otolaryngology, 97, 415-419.","journal-title":"Archives of Otolaryngology"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.13.3.246","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:41:27Z","timestamp":1760737287000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.13.3.246"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1976,6]]},"references-count":6,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1976,6,1]]},"published-print":{"date-parts":[[1976,6]]}},"alternative-id":["10.1136\/jmg.13.3.246"],"URL":"https:\/\/doi.org\/10.1136\/jmg.13.3.246","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1976,6]]}}}