{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T19:13:01Z","timestamp":1759691581162,"version":"build-2065373602"},"reference-count":8,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1986,8]]},"abstract":"<jats:p>We report concordant male monozygotic twins with congenital short femur (proximal focal femoral deficiency) and discuss the aetiological implications. Coincidentally, they and their father have benign familial macrocephaly.<\/jats:p>","DOI":"10.1136\/jmg.23.4.363","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"363-364","source":"Crossref","is-referenced-by-count":5,"title":["Monozygotic twins concordant for congenital short femur."],"prefix":"10.1136","volume":"23","author":[{"given":"J M","family":"Connor","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P S","family":"Rae","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R A","family":"Connor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1986,8,1]]},"reference":[{"issue":"11","key":"ref_1","first-page":"221","article-title":"Congen itial limb anomalics: frequency aind iet iologicail factors. Data fromii the Edinburgh Rcgistcr of the ncwborn","volume":"1974","author":"Rogala, E.J.; Littlejohn, Wynnc-Davics R.; A, Gormicy; J.","year":"1964","unstructured":"Rogala EJ, Wynnc-Davics R. Littlejohn A, Gormicy J. Congen itial limb anomalics: frequency aind iet iologicail factors. Data fromii the Edinburgh Rcgistcr of the ncwborn (1964-1968). J Med Genet 1974tt11:221-33.","journal-title":"J Med Genet"},{"issue":"41","key":"ref_2","first-page":"7","article-title":"Congcnital short fcmur. Simplc fcmoral hypoplasia","volume":"1959","author":"Ring, P.A.","unstructured":"Ring PA. Congcnital short fcmur. Simplc fcmoral hypoplasia. J Boni(' Joiiit Surg (Br) 1959:,41:7'-9.","journal-title":"J Boni(' Joiiit Surg (Br)"},{"issue":"10","key":"ref_3","first-page":"5","article-title":"I roximail focal fcmoral deficicncy (fiamilial)","volume":"1974","author":"Kclly, T.E.","unstructured":"Kclly TE. I roximail focal fcmoral deficicncy (fiamilial). Birth Defects 1974 10( 12): 5)8-9.","journal-title":"Birth Defects"},{"key":"ref_4","first-page":"62","article-title":"Congcnital short fcmur. Clinical, genctic and cpidcmiological comparison of the naturally occurring condition with that caiuscd by thalidomidc","volume":"1980","author":"Hlamanishi, C.","unstructured":"Hlamanishi C. Congcnital short fcmur. Clinical, genctic and cpidcmiological comparison of the naturally occurring condition with that caiuscd by thalidomidc. J Botie Joinit Surg (Br) 1980(:62:3)7-20.","journal-title":"J Botie Joinit Surg (Br)"},{"key":"ref_5","first-page":"1","article-title":"Bcnign familial macrocephaly. Report of a fa, mily and rcvicw of the litcraturc. Pediatrics 1976; 57: 535-40. hVestin GW, Gunderson FO. Proximal femoral focal deficiency: a review of treatment experiences","volume":"1969","author":"GJ, Asch A.J.Mvcrs","year":"1968","unstructured":"Asch AJ. Mvcrs GJ. Bcnign familial macrocephaly. Report of a fa,mily and rcvicw of the litcraturc. Pediatrics 1976;57:535-40. hVestin GW, Gunderson FO. Proximal femoral focal deficiency: a review of treatment experiences. In: Aitken GT, ed. Proximal femoral focal deficiency. A congenital anomaly. Symposium held in Washington, June 13, 1968. Washington: National Academy of Sciences, 1969:1-22.","journal-title":"Symposium held in Washington; Washington: National Academy of Sciences; Proximal femoral focal deficiency. A congenital anomaly"},{"article-title":"SUMMARY A 12 year old girl with the Poland syndrome and the 'morning glory' syndrome is described. The patient presented with absence Received for","year":"1985","key":"ref_6","unstructured":"SUMMARY A 12 year old girl with the Poland syndrome and the 'morning glory' syndrome is described. The patient presented with absence Received for publication 2 March 1985."},{"article-title":"Revised version accepted for publication 4","year":"1985","key":"ref_7","unstructured":"Revised version accepted for publication 4 July 1985."},{"key":"ref_8","unstructured":"of the left pectoralis major muscle, hypoplasia of the left arm, symbrachydactyly, and ipsilateral coloboma of the optic disc. This is the first report of the association of these two congenital anomalies.","article-title":"of the left pectoralis major muscle, hypoplasia of the left arm, symbrachydactyly, and ipsilateral coloboma of the optic disc"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.23.4.363","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:47:36Z","timestamp":1759690056000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.23.4.363"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,8]]},"references-count":8,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1986,8,1]]},"published-print":{"date-parts":[[1986,8]]}},"alternative-id":["10.1136\/jmg.23.4.363"],"URL":"https:\/\/doi.org\/10.1136\/jmg.23.4.363","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1986,8]]}}}