{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T15:11:28Z","timestamp":1770217888866,"version":"3.49.0"},"reference-count":12,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1977,2]]},"abstract":"<jats:p>A new syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis has been described. The family history suggests either an autosomal dominant mode of inheritance with limited expression in females or X-linkage. Other syndromes with similar phenotypes and modes of inheritance are discussed. The need for accurate and complete family histories in cases involving cleft palate and cleft lip\/palate is discussed in relation to genetic counselling and recurrent risk estimates.<\/jats:p>","DOI":"10.1136\/jmg.14.1.76","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"76-80","source":"Crossref","is-referenced-by-count":34,"title":["A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis."],"prefix":"10.1136","volume":"14","author":[{"given":"M A","family":"Abruzzo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R P","family":"Erickson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1977,2,1]]},"reference":[{"key":"ref_1","first-page":"2","article-title":"Familial telecanthus with associated congenital anonalies","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 anonalies. Birth Defects: Original Article Series, 5, No. 2,82-85.","journal-title":"Birth Defects: Original Article Series"},{"key":"ref_2","author":"Drillien, C.M.; Ingram, T.T.S.; Wilkinson, E.M.","year":"1966","unstructured":"Drillien, C. M., Ingram, T. T. S., and Wilkinson, E. M. (1966). The Causes and Natural History of Cleft Lip and Palate. Livingstone, Edinburgh.","journal-title":"The Causes and Natural History"},{"key":"ref_3","first-page":"336","article-title":"The genetics of cleft lip and cleft palate","volume":"22","author":"Fraser, F.C.","year":"1970","unstructured":"Fraser, F. C. (1970). The genetics of cleft lip and cleft palate. American Journal of Human Genetics, 22, 336-352.","journal-title":"American Journal of Human Genetics"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1001\/archpedi.1970.02100050178020","article-title":"Robin's syndrome","volume":"119","author":"Gorlin, R.P.; Cervenka, J.; Anderson, R.C.; Sank, J.J.; Bevis, W.D.","year":"1970","unstructured":"Gorlin, R. P., Cervenka, J., Anderson, R. C., Sank, J. J., and Bevis, W. D. (1970). Robin's syndrome. American Journal of Diseases of Children, 119, 176-178.","journal-title":"American Journal of Diseases of Children"},{"key":"ref_5","author":"Optiz, J.M.; Summitt, R.L.; Smith, D.W.","year":"1969","unstructured":"Optiz, J. M., Summitt, R. L., and Smith, D. W. (1969). The BBB","journal-title":"The BBB"},{"key":"ref_6","first-page":"55","article-title":"Zur pathogenese und therapie des Pierre Robin syndroms","volume":"171","author":"Sachtleben, P.","year":"1964","unstructured":"Sachtleben, P. (1964). Zur pathogenese und therapie des Pierre Robin syndroms. Archiv filr Kinderheilkunde, 171, 55-63.","journal-title":"Archiv filr Kinderheilkunde"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1136\/jmg.3.1.17","article-title":"Sex-linked cleft palate: report of a family and review of 77 kindreds","volume":"3","author":"Weinstein, E.; Cohen, M.M.","year":"1966","unstructured":"Weinstein, E. and Cohen, M. M. (1966). Sex-linked cleft palate: report of a family and review of 77 kindreds. Journal of Medical Genetics, 3, 17-22.","journal-title":"Journal of Medical Genetics"},{"key":"ref_8","article-title":"The Harold Cummins Memorial Dermatoglyphics Symposium and Dermatoglyphics Workshop To honour the late Dr Harold Cummins of Tulane University, New Orleans, these meetings will be held 28-31 March 1977 in the Convention Center at the Gulf State Park Resort, Gulf Shores, Alabama. The meetings being jointly sponsored by the","volume-title":"are designed both to introduce newcomers to dermatoglyphic techniques and to review the present status of the science in some detail","unstructured":"The Harold Cummins Memorial Dermatoglyphics Symposium and Dermatoglyphics Workshop To honour the late Dr Harold Cummins of Tulane University, New Orleans, these meetings will be held 28-31 March 1977 in the Convention Center at the Gulf State Park Resort, Gulf Shores, Alabama. The meetings being jointly sponsored by the American Dermatoglyphics Association and the Department of Medical Genetics, University of South Alabama, Mobile, are designed both to introduce newcomers to dermatoglyphic techniques and to review the present status of the science in some detail."},{"key":"ref_9","article-title":"Fourth International Workshop on Human Gene Mapping The Fouth International Workshop on Human Gene Mapping will be held in Winnipeg","author":"Canada from Sunday 14 August to Thursday 18","year":"1977","unstructured":"Fourth International Workshop on Human Gene Mapping The Fouth International Workshop on Human Gene Mapping will be held in Winnipeg, Canada from Sunday 14 August to Thursday 18 August 1977."},{"key":"ref_10","article-title":"Closing date for applications is","author":"Canada","year":"1977","unstructured":"Canada. Closing date for applications is 1 April 1977."},{"key":"ref_11","article-title":"Conference on Clinical Delineation of Birth Defects The University of Tennessee Center For The Health Sciences, Memphis, Tennessee, and The National Foundation-March of Dimes will sponsor","volume-title":"the 1977 Conference on the Clinical Delineation of Birth Defects, 8 to 10 June; in Memphis. For information write Robert L","author":"Summitt, M.D.","year":"1977","unstructured":"Conference on Clinical Delineation of Birth Defects The University of Tennessee Center For The Health Sciences, Memphis, Tennessee, and The National Foundation-March of Dimes will sponsor the 1977 Conference on the Clinical Delineation of Birth Defects, 8 to 10 June 1977, in Memphis. For information write Robert L. Summitt, M.D., Department of Pediatrics, University of Tennessee Center for The Health Sciences, Memphis, Tennessee 38163, USA."},{"key":"ref_12","first-page":"21","article-title":"The Congress will be concerned with Genetics and Human Welfare. The main subjects of contemporary genetics will be included in the programme of the plenary and other sessions and symposia","volume-title":"Fourteenth International Congress on Genetics The Fourteenth International Congress of Genetics will be held in Moscow, USSR","author":"August","year":"1978","unstructured":"Fourteenth International Congress on Genetics The Fourteenth International Congress of Genetics will be held in Moscow, USSR, 21-30 August, 1978. The Congress will be concerned with Genetics and Human Welfare. The main subjects of contemporary genetics will be included in the programme of the plenary and other sessions and symposia."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.14.1.76","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:21:13Z","timestamp":1760761273000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.14.1.76"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1977,2]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1977,2,1]]},"published-print":{"date-parts":[[1977,2]]}},"alternative-id":["10.1136\/jmg.14.1.76"],"URL":"https:\/\/doi.org\/10.1136\/jmg.14.1.76","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1977,2]]}}}