{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:54Z","timestamp":1761718074887,"version":"build-2065373602"},"reference-count":11,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1986,6]]},"abstract":"<jats:p>A male infant is described with severe micrognathia and bilateral duplication of the proximal phalanges of the index fingers, an association which is characteristic of the Catel-Manzke syndrome. In addition, he had dislocatable knees, which have not been described in this disorder before.<\/jats:p>","DOI":"10.1136\/jmg.23.3.271","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"271-274","source":"Crossref","is-referenced-by-count":13,"title":["A male infant with the Catel-Manzke syndrome and dislocatable knees."],"prefix":"10.1136","volume":"23","author":[{"given":"E M","family":"Thompson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R M","family":"Winter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M J","family":"Williams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1986,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1055\/s-0029-1227991","article-title":"Symmetrische hyperphalangie des zweiten fingers durch ein akzessorisches metacarpale","volume":"105","author":"Manzke, H.","year":"1966","unstructured":"Manzke H. Symmetrische hyperphalangie des zweiten fingers durch ein akzessorisches metacarpale. Fortschr Rontgenstr 1966; 105:425-7.","journal-title":"Fortschr Rontgenstr"},{"key":"ref_2","first-page":"218","article-title":"Differentialdiagnose von krankheitssymptomen bei kindern und jugendlichen","volume":"1","author":"Catel, W.","year":"1961","unstructured":"Catel W. Differentialdiagnose von krankheitssymptomen bei kindern und jugendlichen. Vol 1, 3rd ed. Stuttgart: Thieme, 1961:218-20.","edition":"3rd ed","journal-title":"Vol"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1111\/j.1399-0004.1982.tb01395.x","article-title":"Hyperphalangy and clinodactyly of the index finger with Pierre-Robin anomaly: Catel-Manzke syndrome. A case report and review of the literature","volume":"21","author":"Sundaram, V.; Taysi, K.; Hartmann, A.F.; Shackleford, G.D.; Keating, J.P.","year":"1982","unstructured":"Sundaram V, Taysi K, Hartmann AF, Shackleford GD, Keating JP. Hyperphalangy and clinodactyly of the index finger with Pierre-Robin anomaly: Catel-Manzke syndrome. A case report and review of the literature. Clin Genet 1982;21:407-10.","journal-title":"Clin Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1007\/BF00972113","article-title":"Pierre Robin syndrome with hyperphalangism-clinodactylism of the index finger: a possible new palato-digital syndrome","volume":"6","author":"Silengo, M.C.; Franceschini, P.; Cerutti, A.; Fabris, C.","year":"1977","unstructured":"Silengo MC, Franceschini P, Cerutti A, Fabris C. Pierre Robin syndrome with hyperphalangism-clinodactylism of the index finger: a possible new palato-digital syndrome. Pediatr Radiol 1977;6: 178-80.","journal-title":"Pediatr Radiol"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1136\/jmg.15.2.162","article-title":"Cleft palate and accessory metacarpal of index finger syndrome: possible familial occurrence","volume":"15","author":"Gewitz, M.; Dinwiddie, R.; Yuille, T.; Hill, E.; Carter, C.O.","year":"1978","unstructured":"Gewitz M, Dinwiddie R, Yuille T, Hill E, Carter CO. Cleft palate and accessory metacarpal of index finger syndrome: possible familial occurrence. J Med Genet 1978;15:162-3.","journal-title":"J Med Genet"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1136\/jmg.17.3.238","article-title":"A digito-palatal syndrome with associated anomalies of the heart, face, and skeleton","volume":"17","author":"Stevenson, R.E.; Taylor, H.A.; Burton, O.M.; Hearn, H.B.","year":"1980","unstructured":"Stevenson RE, Taylor HA, Burton OM, Hearn HB. A digito-palatal syndrome with associated anomalies of the heart, face, and skeleton. J Med Genet 1980;17:238-41.","journal-title":"J Med Genet"},{"key":"ref_7","first-page":"253","article-title":"The Pierre Robin syndrome: unusual associated developmental defects","volume":"15","author":"Holthusen, W.","year":"1972","unstructured":"Holthusen W. The Pierre Robin syndrome: unusual associated developmental defects. Ann Radiol (Paris) 1972;15:253-62.","journal-title":"Ann Radiol (Paris)"},{"key":"ref_8","first-page":"600","article-title":"Glossoptotic hypoxia and micrognathia-the Pierre Robin sequence reviewed","volume":"10","author":"Farnsworth, P.B.; Pacik, P.T.","year":"1971","unstructured":"Farnsworth PB, Pacik PT. Glossoptotic hypoxia and micrognathia-the Pierre Robin sequence reviewed. Clin Pediatr 1971;10:600-6.","journal-title":"Clin Pediatr"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/S0022-3476(84)80995-6","article-title":"Maternal hyperphenylalaninaemia fetal effects","volume":"104","author":"Lipson, A.; Beuhler, B.; Bartley, J.","year":"1984","unstructured":"Lipson A, Beuhler B, Bartley J, et al. Maternal hyperphenylalaninaemia fetal effects. J Pediatr 1984;104:216-20.","journal-title":"J Pediatr"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1542\/peds.40.1.33","article-title":"Congenital malformations in offspring of phenylketonuric mothers","volume":"40","author":"Stevenson, R.E.; Huntley, C.C.","year":"1967","unstructured":"Stevenson RE, Huntley CC. Congenital malformations in offspring of phenylketonuric mothers. Pediatrics 1967;40:33-45.","journal-title":"Pediatrics"},{"article-title":"SUMMARY Amniotic fluid cultures from a 37 year old woman showed a sporadic 46, XX, t(5; 21)(5qter-*5pl3 or pl4:: 5pter-*5pl3 or pl4:: 21pl2->21qter) complement. In the majority of metaphases the 5p fragment was attached to the stalks of chromosome 21; however, in 9% of metaphases, the fragment was loosely attached by a 'thread' and in 6% it was completely detached. Silver staining and in situ hybridisation with a homologous ribosomal gene probe, which localises to stalk regions (nucleolar organisers, NOR) of human acrocentric chromosomes, failed to show a reciprocal exchange. Prognosis was uncertain because the possibility that the 5p fragment might have been lost in some cell lines could not be excluded. Nonetheless, the parents elected to continue the pregnancy. The translocation was confirmed in blood specimens obtained both at birth and at 1 year of age and Received for publication","year":"1985","key":"ref_11","unstructured":"SUMMARY Amniotic fluid cultures from a 37 year old woman showed a sporadic 46,XX,t(5;21)(5qter-*5pl3 or pl4::5pter-*5pl3 or pl4::21pl2->21qter) complement. In the majority of metaphases the 5p fragment was attached to the stalks of chromosome 21; however, in 9% of metaphases, the fragment was loosely attached by a 'thread' and in 6% it was completely detached. Silver staining and in situ hybridisation with a homologous ribosomal gene probe, which localises to stalk regions (nucleolar organisers, NOR) of human acrocentric chromosomes, failed to show a reciprocal exchange. Prognosis was uncertain because the possibility that the 5p fragment might have been lost in some cell lines could not be excluded. Nonetheless, the parents elected to continue the pregnancy. The translocation was confirmed in blood specimens obtained both at birth and at 1 year of age and Received for publication 27 July 1985. Accepted for publication 13 August 1985."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.23.3.271","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:41:00Z","timestamp":1760726460000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.23.3.271"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,6]]},"references-count":11,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1986,6,1]]},"published-print":{"date-parts":[[1986,6]]}},"alternative-id":["10.1136\/jmg.23.3.271"],"URL":"https:\/\/doi.org\/10.1136\/jmg.23.3.271","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1986,6]]}}}