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Familial heart disease with skeletal malfor -"},{"key":"ref2","doi-asserted-by":"crossref","unstructured":"mations. Br Heart J. 1960; 22: 236-242.","DOI":"10.1136\/hrt.22.2.236"},{"key":"ref3","unstructured":"2. Basson CT, Cowley GS, Solomon SD, Weissman B, Poznanski"},{"key":"ref4","unstructured":"AK, Traill TA, et al. The clinical and genetic spectrum of the 7"},{"key":"ref5","unstructured":"8. Stoll C, Dott B, Alembik Y, Roth MP. Associated malformations among infants with radial"},{"key":"ref6","unstructured":"ray deficiency. Genetic counseling (Geneva, Switzerland). 2013;  24(2):  223-234."},{"key":"ref7","unstructured":"9. Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, et al . Mutations in human"},{"key":"ref8","unstructured":"TBX5 [corrected] cause limb and cardiac malformation in Holt -Oram syndrome. Nat Genet."},{"key":"ref9","unstructured":"1997;15(1):30 -35."},{"key":"ref10","unstructured":"Figure 1. Morphological abnormalities of the upper limb"},{"key":"ref11","unstructured":"Figure 1. Morphological abnormalities of the upper limb8"},{"key":"ref12","unstructured":"Figure 2. Posteroanterior radiograp h of the hands of the patient. The distal phalanx of"},{"key":"ref13","unstructured":"both thumbs are hypoplastic. In association with congenital heart disease, the upper"},{"key":"ref14","unstructured":"limb deformities are suggestive of Holt -Oram syndrome.  Figure 2. Posteroanterior radiograph of the hands of the patient."},{"key":"ref15","unstructured":"The distal phalanx of both thumbs is hypoplastic. In association with"},{"key":"ref16","unstructured":"congenital heart disease, the upper limb deformities are suggestive of"},{"key":"ref17","unstructured":"Holt-Oram syndrome."},{"key":"ref18","unstructured":"Holt-Oram Syndrome and Crohn\u2019s Disease"},{"key":"ref19","doi-asserted-by":"crossref","unstructured":"294 CASE REPORT | MED ARCH. 2018 AUG; 72(4): 292-294Holt-Oram syndrome (heart-hand syndrome). N Engl J Med.","DOI":"10.5455\/medarh.2018.72.292-294"},{"key":"ref20","unstructured":"1994; 330(13): 885-891."},{"key":"ref21","unstructured":"3. Nourzad G, Baghershiroodi M. A case report on holt-oram"},{"key":"ref22","unstructured":"syndrome (heart-hand). ARYA Atheroscler. 2011; 7(2): 87-92."},{"key":"ref23","unstructured":"4. McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueck-"},{"key":"ref24","unstructured":"ner M, et al. TBX5 genetic testing validates strict clinical cri-"},{"key":"ref25","doi-asserted-by":"crossref","unstructured":"teria for Holt-Oram syndrome. Pediatr Res. 2005; 58(5): 981-","DOI":"10.1203\/01.PDR.0000182593.95441.64"},{"key":"ref26","unstructured":"5. Huang T. Current advances in Holt-Oram syndrome. Curr"},{"key":"ref27","doi-asserted-by":"crossref","unstructured":"Opin Pediatr. 2002;14(6): 691-695.","DOI":"10.1097\/00008480-200212000-00008"},{"key":"ref28","doi-asserted-by":"crossref","unstructured":"6. Sinha R, Nema C. Rare cardiac defect in Holt-Oram syndrome. Cardiovasc J Afr. 2012; 23(2): e3-4.","DOI":"10.5830\/CVJA-2011-017"},{"key":"ref29","unstructured":"7. Lichiardopol C, Militaru C, Popescu B, Hila G, Mixich F. Holt-"},{"key":"ref30","unstructured":"Oram syndrome. Rom J Morphol Embryol. 2007; 48(1): 67-70."},{"key":"ref31","unstructured":"8. Stoll C, Dott B, Alembik Y, Roth MP. Associated malforma-"},{"key":"ref32","unstructured":"tions among infants with radial ray defi  ciency. Genetic coun-"},{"key":"ref33","unstructured":"seling (Geneva, Switzerland). 2013; 24(2): 223-234."},{"key":"ref34","unstructured":"9. Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J,"},{"key":"ref35","unstructured":"et al. Mutations in human TBX5 [corrected] cause limb and"},{"key":"ref36","unstructured":"cardiac malformation in Holt-Oram syndrome. Nat Genet."},{"key":"ref37","unstructured":"1997;15(1):30-35."}],"container-title":["Medical Archives"],"original-title":[],"link":[{"URL":"https:\/\/ejmanager.com\/mnstemps\/10\/10-1533473289.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T17:55:57Z","timestamp":1791482157000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ejmanager.com\/mnstemps\/10\/10-1533473289.pdf"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"references-count":37,"URL":"https:\/\/doi.org\/10.5455\/medarh.2018.72.292-294","relation":{},"ISSN":["0350-199X"],"issn-type":[{"value":"0350-199X","type":"print"}],"subject":[],"published":{"date-parts":[[2018]]}}}