{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:56Z","timestamp":1761718076869,"version":"build-2065373602"},"reference-count":17,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1978,4]]},"abstract":"<jats:p>A case of cleft palate and accessory metacarpal of index finger syndrome is described and related to the presence of Pierre Robin syndrome in a stillborn sibling. The significance of this relationship is discussed.<\/jats:p>","DOI":"10.1136\/jmg.15.2.162","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"162-164","source":"Crossref","is-referenced-by-count":15,"title":["Cleft palate and accessory metacarpal of index finger syndrome: possible familial occurrence."],"prefix":"10.1136","volume":"15","author":[{"given":"M","family":"Gewitz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Dinwiddie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Yuille","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Hill","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C O","family":"Carter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1978,4,1]]},"reference":[{"key":"ref_1","first-page":"129","article-title":"Hereditary congenital dislocations of the radius","volume":"43","author":"Abbott, F.C.","year":"1892","unstructured":"Abbott, F. C. (1892). Hereditary congenital dislocations of the radius. Transactions of the Pathological Society of London, 43, 129-139.","journal-title":"Transactions of the Pathological Society of London"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/S0022-3476(73)80321-X","article-title":"Radioulnar synostosis and craniosynostosis in one family","volume":"83","author":"Berant, M.; Berant, N.","year":"1973","unstructured":"Berant, M., and Berant, N. (1973). Radioulnar synostosis and craniosynostosis in one family. Journal ofPediatrics, 83, 88-90.","journal-title":"Journal ofPediatrics"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/S0022-3476(69)80014-4","article-title":"Radioulnar synostosis, behavioral disturbance, and XYY chromosomes","volume":"74","author":"Cleveland, W.W.; Arias, D.; Smith, G.F.","year":"1969","unstructured":"Cleveland, W. W., Arias, D., and Smith, G. F. (1969). Radioulnar synostosis, behavioral disturbance, and XYY chromosomes. Journal ofPediatrics, 74, 103-106.","journal-title":"Journal ofPediatrics"},{"key":"ref_4","first-page":"705","article-title":"Radioulnar synostosis","volume":"8","author":"Davenport, C.B.; Taylor, H.L.; Nelson, L.A.","year":"1924","unstructured":"Davenport, C. B., Taylor, H. L., and Nelson, L. A. (1924). Radioulnar synostosis. Archives ofSurgery, 8, 705-762.","journal-title":"Archives ofSurgery"},{"key":"ref_5","first-page":"395","article-title":"Radio-ulnar synostosis. Historical review and case report","volume":"30","author":"Fahlstrom, S.","year":"1932","unstructured":"Fahlstrom, S. (1932). Radio-ulnar synostosis. Historical review and case report. Journal ofBone and Joint Surgery, 30, 395-403.","journal-title":"Journal ofBone and Joint Surgery"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"225","DOI":"10.3109\/17453677008991509","article-title":"Congenital radio-ulnar synostosis. Report of 37 cases","volume":"41","author":"Hansen, 0. H.; Andersen, N. 0","year":"1970","unstructured":"Hansen, 0. H., and Andersen, N. 0. (1970). Congenital radio-ulnar synostosis. Report of 37 cases. Acta Orthopaedica Scandinavica, 41, 225-230.","journal-title":"Acta Orthopaedica Scandinavica"},{"issue":"10-1","key":"ref_7","first-page":"1","article-title":"Radioulnar synostosis. A common occurrence in sex chromosomal abnormalities","volume":"122","author":"Jancu, J.","year":"1971","unstructured":"Jancu, J. (1971). Radioulnar synostosis. A common occurrence in sex chromosomal abnormalities. American Journal ofDiseases of Children, 122, 10-1 1.","journal-title":"American Journal ofDiseases of Children"},{"key":"ref_8","first-page":"945952","article-title":"Swivel for proximal radioulnar synostosis","volume":"39","author":"Kelikian, H.; Doumanian, A.","year":"1957","unstructured":"Kelikian, H., and Doumanian, A. (1957). Swivel for proximal radioulnar synostosis. Journal of Bone and Joint Surgery, 39, 945952.","journal-title":"Journal of Bone and Joint Surgery"},{"issue":"1","key":"ref_9","first-page":"227","volume":"1","author":"Sandifort, E.","year":"1793","unstructured":"Sandifort, E. (1793). Museum Anatomicum Academiae LugdunoBatavae, Leyden, 1, P1. 103, Figs. 1, 2, and 3, 227.","journal-title":"Museum Anatomicum Academiae LugdunoBatavae, Leyden"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1002\/bjs.1800010305","article-title":"Congenital radio-ulnar synostosis","volume":"1","author":"Wilkie, D.P.D.","year":"1914","unstructured":"Wilkie, D. P. D. (1914). Congenital radio-ulnar synostosis. British Journal ofSurgery, 1, 366-375.","journal-title":"British Journal ofSurgery"},{"key":"ref_11","article-title":"The bony abnormalities in this patient are strikingly similar to the malformations described in the three previously reported cases. The association of these anomalies with the other defects probably represents a distinct syndrome. The accessory bone later fuses with the first phalanx so the term 'accessory metacarpal' may be a misnomer. The coexistent atrial septal defect in our patient and his brother was also found in the syndrome described by","year":"1970","unstructured":"The bony abnormalities in this patient are strikingly similar to the malformations described in the three previously reported cases. The association of these anomalies with the other defects probably represents a distinct syndrome. The accessory bone later fuses with the first phalanx so the term 'accessory metacarpal' may be a misnomer. The coexistent atrial septal defect in our patient and his brother was also found in the syndrome described by Gorlin et al. (1970) of Robin's anomaly with talipes equinovarus and persistent left superior vena cava.","journal-title":"Gorlin et al; of Robin's anomaly with talipes equinovarus and persistent left superior vena cava"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1177\/000992287101001029","article-title":"Glossoptotic hypoxia and micrognathia-the Pierre Robin syndrome reviewed","volume":"10","author":"Farnsworth, P.B.; Pacik, P.T.","year":"1971","unstructured":"Farnsworth, P. B., and Pacik, P. T. (1971). Glossoptotic hypoxia and micrognathia-the Pierre Robin syndrome reviewed. Clinical Pediatrics, 10, 600-606.","journal-title":"Clinical Pediatrics"},{"key":"ref_13","first-page":"176","article-title":"Robin's syndrome","volume":"119","author":"Gorlin, R.J.; Cervenka, J.; Anderson, R.C.; Sank, J.J.; Bevis, W.D.","year":"1970","unstructured":"Gorlin, R. J., Cervenka, J., Anderson, R. C., Sank, J. J., and Bevis, W. D. (1970). Robin's syndrome. American Journal ofDiseases ofChildren, 119, 176-178.","journal-title":"American Journal ofDiseases ofChildren"},{"key":"ref_14","first-page":"253","article-title":"The Pierre Robin syndrome: unusual associated developmental defects","volume":"1","author":"Holthusen, W.","year":"1972","unstructured":"Holthusen, W. (1972). The Pierre Robin syndrome: unusual associated developmental defects. Annales de Radiologie, 1, 253-262.","journal-title":"Annales de Radiologie"},{"key":"ref_15","first-page":"425","article-title":"Symmetrische Hyperphalangie des zweiten Fingers durch ein akzessorisches Metacarpale. Fortschritte auf dem","volume":"10","author":"Manzke, H.","year":"1966","unstructured":"Manzke, H. (1966). Symmetrische Hyperphalangie des zweiten Fingers durch ein akzessorisches Metacarpale. Fortschritte auf dem Gebiete der Rontgenstrahlen, 10, 425-427.","journal-title":"Gebiete der Rontgenstrahlen"},{"key":"ref_16","article-title":"Recognizable patterns of human malformation","volume-title":"Major Problems in Clinical Pediatrics","author":"Smith, D.","year":"1976","unstructured":"Smith, D. (1976). Recognizable patterns of human malformation. In Major Problems in Clinical Pediatrics, Vol. VII. Ed. by A. J. Schaffer. W. B. Saunders, Philadelphia and London."},{"key":"ref_17","article-title":"San Francisco, and the National Foundation-March of Dimes are sponsoring the 1978 Birth Defects Conference","volume-title":"For information write to Dr","author":"California 94143, USA.","year":"1978","unstructured":"The University of California, San Francisco, and the National Foundation-March of Dimes are sponsoring the 1978 Birth Defects Conference, 12-14 June 1978. For information write to Dr. Bryan D. Hall, M648, Department of Pediatrics, University of California, San Francisco, California 94143, USA."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.15.2.162","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:30:28Z","timestamp":1759689028000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.15.2.162"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,4]]},"references-count":17,"journal-issue":{"issue":"2","published-online":{"date-parts":[[1978,4,1]]},"published-print":{"date-parts":[[1978,4]]}},"alternative-id":["10.1136\/jmg.15.2.162"],"URL":"https:\/\/doi.org\/10.1136\/jmg.15.2.162","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1978,4]]}}}