{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:55Z","timestamp":1761718075172,"version":"build-2065373602"},"reference-count":12,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1977,12]]},"abstract":"<jats:p>A 13-year-old girl sought medical advice, saying that for two years it had been increasingly difficult for her to extend her little finger. An examination revealed that all her fingers, with the exception of her thumbs, had no interphalangeal fold. Her mother had less pronounced signs of the same type. This abnormality seemed to be the result of an autosomal gene with dominant transmission.<\/jats:p>","DOI":"10.1136\/jmg.14.6.466","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"466-467","source":"Crossref","is-referenced-by-count":4,"title":["Absence of distal interphalangeal fold causing difficulty in extending fingers."],"prefix":"10.1136","volume":"14","author":[{"given":"D","family":"Lambert","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Nivelon-Chevallier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J L","family":"Chapuis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1977,12,1]]},"reference":[{"key":"ref_1","first-page":"129","article-title":"Diseases of Children","volume-title":"Picture of the month","author":"American Journal of","year":"1975","unstructured":"American Journal of Diseases of Children (1975). Picture of the month. 129,951-952."},{"key":"ref_2","first-page":"826","article-title":"syndrome","volume":"8","author":"Cassidy, S.B.; McGee, B.J.; van Eys, J.; Nance, W.E.; Engel, E.","year":"1975","unstructured":"Cassidy, S. B., McGee, B. J., van Eys, J., Nance, W. E., and Engel, E. (1975). Trisomy 8 syndrome. Pediatrics, 56, 826-831.","journal-title":"Trisomy"},{"key":"ref_3","first-page":"56","article-title":"mosaicism syndrome","volume":"8","author":"Fineman, R.M.; Ablow, R.C.; Howard, R.O.; Albright, J.; Breg, W.R.","year":"1975","unstructured":"Fineman, R. M., Ablow, R. C., Howard, R. O., Albright, J., and Breg, W. R. (1975). Trisomy 8 mosaicism syndrome. Pediatrics, 56,762-767.","journal-title":"Trisomy"},{"key":"ref_4","first-page":"214","article-title":"Trisomies of chromosome","author":"Iejeune, J.; Rethore, M. 0","year":"1973","unstructured":"Iejeune, J., and Rethore, M. 0. (1973). Trisomies of chromosome No. 8. Nobel 23, Chromosome Identification, 214-216."},{"issue":"9","key":"ref_5","article-title":"Supplement. Standardization in human genetics. Birth Defects: Original Article","volume":"9","author":"Paris Conference","year":"1971","unstructured":"Paris Conference (1971), Supplement. Standardization in human genetics. Birth Defects: Original Article Series, 9, No. 9, 1975. The National Foundation-March of Dimes, New York.","journal-title":"Series; The National Foundation-March of Dimes"},{"key":"ref_6","first-page":"297","volume-title":"Partial trisomy 8 (8q24) and the trisomy 8 syndrome. Humangenetik","volume":"23","author":"Sanchez, O.; Yunis, J.L.","year":"1974","unstructured":"Sanchez, O., and Yunis, J. L. (1974). Partial trisomy 8 (8q24) and the trisomy 8 syndrome. Humangenetik, 23, 297-303."},{"unstructured":"From a nosological point of view, the interphalangeal fusion described by Inman (1924), Daniel (1936), and Steinberg and Reynolds (1948), bears some resemblance to our 2 cases, though they are not characterised by bone fusion.","article-title":"From a nosological point of view, the interphalangeal fusion described by Inman (1924), Daniel (1936), and Steinberg and Reynolds (1948), bears some resemblance to our 2 cases, though they are not characterised by bone fusion","key":"ref_7"},{"volume-title":"As a","unstructured":"One similar record (Fried and Mundel, 1976) has been published. These authors report 8 cases in 4 generations of Ashkenazi Jews. The patients had no distal interphalangeal fold and most of them had difficulty in flexing and extending their fingers. As a","article-title":"One similar record (Fried and Mundel, 1976) has been published. These authors report 8 cases in 4 generations of Ashkenazi Jews. The patients had no distal interphalangeal fold and most of them had difficulty in flexing and extending their fingers","key":"ref_8"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1111\/j.1469-1809.1936.tb02146.x","article-title":"A case of hereditary anarthrosis of the index finger, with associated abnormalities in the proportion of the fingers","volume":"7","author":"Daniel, G.H.","year":"1936","unstructured":"Daniel, G. H. (1936). A case of hereditary anarthrosis of the index finger, with associated abnormalities in the proportion of the fingers. Annals of Eugenics, 7, 281-297.","journal-title":"Annals of Eugenics"},{"key":"ref_10","first-page":"13","article-title":"Absence of distal interphalangeal creases of fingers with flexion limitation","author":"Fried, K.; Mundel, G.","year":"1976","unstructured":"Fried, K., and Mundel, G. (1976). Absence of distal interphalangeal creases of fingers with flexion limitation. Journal of Medical Genetics, 13,127-130.","journal-title":"Journal of Medical Genetics"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1093\/oxfordjournals.jhered.a102482","article-title":"Four generations of symphalangism","volume":"15","author":"Inman, 0. L","year":"1924","unstructured":"Inman, 0. L. (1924). Four generations of symphalangism. Journal ofHeredity, 15, 329-334.","journal-title":"Journal ofHeredity"},{"key":"ref_12","first-page":"39","article-title":"Further data on symphalangism","volume":"ofHeredity,","author":"Steinberg, A.G.; Reynolds, E.L.","year":"1948","unstructured":"Steinberg, A. G., and Reynolds, E. L. (1948). Further data on symphalangism. Journal ofHeredity, 39,23-27.","journal-title":"Journal"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.14.6.466","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:40:37Z","timestamp":1760737237000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.14.6.466"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1977,12]]},"references-count":12,"journal-issue":{"issue":"6","published-online":{"date-parts":[[1977,12,1]]},"published-print":{"date-parts":[[1977,12]]}},"alternative-id":["10.1136\/jmg.14.6.466"],"URL":"https:\/\/doi.org\/10.1136\/jmg.14.6.466","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1977,12]]}}}