{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T00:28:09Z","timestamp":1790036889790,"version":"4.0.1"},"reference-count":15,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1974,9]]},"abstract":"<jats:p>This paper reports a detailed follow up of 156 patients with structural upper and lower limb anomalies, obtained from the Edinburgh Register of the Newborn (a registration of 52,029 consecutive births between 1964 and 1968). At the time of this survey the patients were between 4 and 9 years of age.<\/jats:p>\n               <jats:p>The Register had noted probably 96% of all children born with limb defects in Edinburgh between 1964 and 1968. It was found that the diagnosis was completely accurate in only 26% of cases, and partially so in a further 42%.<\/jats:p>\n               <jats:p>The frequency of each anomaly has been noted, subdivided into isolated anomalies; those that occurred with other limb anomalies, and those that formed part of a syndrome. Syndactyly of toes, post-axial polydactyly of the fingers, polysyndactyly, and brachydactyly were found to have a genetic basis. All `absence' defects, pre-axial polydactyly, and multiple limb deformities appeared to be sporadic. Amongst the sporadic group, the main aetiological factors noted were an excess of maternal toxaemia of pregnancy and of illegitimate children, when compared with the Register Control Data.<\/jats:p>","DOI":"10.1136\/jmg.11.3.221","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"221-233","source":"Crossref","is-referenced-by-count":126,"title":["Congenital limb anomalies: frequency and aetiological factors: Data from the Edinburgh Register of the Newborn (1964-68)"],"prefix":"10.1136","volume":"11","author":[{"given":"E. J.","family":"Rogala","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Wynne-Davies","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Littlejohn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Gormley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1974,9,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.2106\/00004623-196951060-00007","article-title":"Congenital dislocation of the head of the radius","volume":"51","author":"Almquist, E.E.; Gordon, L.H.; Blue, A.I.","year":"1969","unstructured":"Almquist, E. E., Gordon, L. H., and Blue, A. I. (1969). Congenital dislocation of the head of the radius. 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Norman, pp. 1. Blackwell, Oxford."},{"key":"ref_5","article-title":"Danish Year Book","author":"of Statistics. Department of Statistics, Copenhagen.","year":"1946","unstructured":"Danish Department of Statistics (1946). Danish Year Book of Statistics. Department of Statistics, Copenhagen."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1136\/jmg.9.3.316","article-title":"Dominant ectrodactyly and possible germinal mosaicism. J7ournal of","volume":"9","author":"David, T.J.","year":"1972","unstructured":"David, T. J. (1972). Dominant ectrodactyly and possible germinal mosaicism. J7ournal of Medical Genetics, 9, 316-320.","journal-title":"Medical Genetics"},{"key":"ref_7","article-title":"Epidemiology of congenital abnormalities (a report of two related studies carried out in Scotland during period 1964-1968)","author":"Dean, N.","year":"1973","unstructured":"Dean, N. (1973). Epidemiology of congenital abnormalities (a report of two related studies carried out in Scotland during period 1964-1968). (Personal communication.)"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"225","DOI":"10.3109\/17453677008991509","article-title":"Congenital radio-ulnar synostosis","volume":"41","author":"H.; Andersen, N. 0","year":"1970","unstructured":"H. and Andersen, N. 0. (1970). Congenital radio-ulnar synostosis. Acta Orthopaedica Scandinavica, 41, 225-230.","journal-title":"Acta Orthopaedica Scandinavica"},{"key":"ref_9","first-page":"465","article-title":"Syndactylism. J3ournal of Bone and","volume":"39","author":"Kite, J.H.","year":"1957","unstructured":"Kite, J. H. (1957). Syndactylism. J3ournal of Bone and Joint Surgery, 39A, 465.","journal-title":"Joint Surgery"},{"key":"ref_10","doi-asserted-by":"crossref","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, P.M.; Smith, D.W.; McDonald, M.J.","year":"1964","unstructured":"Marden, P. M., Smith, D. W., and McDonald, M. J. (1964). Congenital anomalies in the newborn infant, including minor variations. Journal of Pediatrics, 64, 357-371.","journal-title":"Journal of Pediatrics"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1542\/peds.14.5.505","article-title":"The incidence of congenital malformations","volume":"14","author":"McIntosh, R.; Merritt, K.K.; Richards, M.R.; Samuels, M.H.; Bellows, M.T.","year":"1954","unstructured":"McIntosh, R., Merritt, K. K., Richards, M. R., Samuels, M. H., and Bellows, M. T. (1954). The incidence of congenital malformations. 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Congenital malformations: a detailed study of 2500 liveborn infants. Annals of Human Genetics, 32, 353-360.","journal-title":"Annals of Human Genetics"},{"issue":"3","key":"ref_14","first-page":"125","article-title":"Synopsis of hand malformations with particular emphasis on genetic factors. Birth Defects: Original Article","volume":"5","author":"Temtamy, S.; McKusick, V.A.","year":"1969","unstructured":"Temtamy, S. and McKusick, V. A. (1969). Synopsis of hand malformations with particular emphasis on genetic factors. Birth Defects: Original Article Series, 5, pt. 3, 125-184. National Foundation-March of Dimes, New York. Woolf, C. M.","journal-title":"Series"},{"key":"ref_15","first-page":"75","article-title":"A genetic study of polydactyly in Utah","volume":"22","author":"Temtamy, S.; McKusick, V.A.; Woolf, R.M.","year":"1970","unstructured":"Temtamy, S. and McKusick, V. A. and Woolf, R. M. (1970). A genetic study of polydactyly in Utah. 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