{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,11]],"date-time":"2026-06-11T10:26:45Z","timestamp":1781173605956,"version":"3.54.1"},"reference-count":31,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Heart"],"published-print":{"date-parts":[[1978,5,1]]},"DOI":"10.1136\/hrt.40.5.500","type":"journal-article","created":{"date-parts":[[2007,9,18]],"date-time":"2007-09-18T21:46:00Z","timestamp":1190151960000},"page":"500-509","source":"Crossref","is-referenced-by-count":46,"title":["Cardiovascular malformations in Turner's and Noonan's syndrome."],"prefix":"10.1136","volume":"40","author":[{"given":"L G","family":"Van der Hauwaert","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J P","family":"Fryns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Dumoulin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Logghe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1136\/hrt.38.5.472","article-title":"'Isolated' pulmonary valve stenosis as part of more widespread cardiovascular disease","volume":"38","author":"Becu, L.; Somerville, J.; Galo, A.","year":"1976","unstructured":"Becu, L., Somerville, J., and Galo, A. (1976). 'Isolated' pulmonary valve stenosis as part of more widespread cardiovascular disease. British Heart journal, 38, 472-482.","journal-title":"British Heart journal"},{"key":"ref_2","first-page":"351","article-title":"Pulmonarv stenosis in patients with the Turner phenotype in the male","volume":"116","author":"Celermajer, J.M.; Bowdler, J.D.; Cohen, D.H.","year":"1968","unstructured":"Celermajer, J. M., Bowdler, J. D., and Cohen, D. H. (1968). Pulmonarv stenosis in patients with the Turner phenotype in the male. American Journal of Diseases of Children, 116, 351-358.","journal-title":"American Journal of Diseases of Children"},{"key":"ref_3","first-page":"110","article-title":"The Noonan syndrome. A clinical study of forty-five cases","volume":"8","author":"Char, F.; Rodriguez-Fernandez, H.L.; Scott, C.I.; Borgaonkar, D.S.; Bell, B.B.; Rowe, R.D.","year":"1972","unstructured":"Char, F., Rodriguez-Fernandez, H. L., Scott, C. I., Borgaonkar, D. S., Bell, B. B., and Rowe, R. D. (1972). The Noonan syndrome. A clinical study of forty-five cases. Birth Defects, 8, 110-118.","journal-title":"Birth Defects"},{"key":"ref_4","first-page":"511","article-title":"Le syndrome dit de 'Turner male'","volume":"25","author":"Dupuis, C.; Nuyts, J.-P.; Maillard, E.; Bouvier, C.; Lefebvre, P.; Fontaine, G.; Gaudier, B.","year":"1968","unstructured":"Dupuis, C., Nuyts, J-P., Maillard, E., Bouvier, C., Lefebvre, P., Fontaine, G., and Gaudier, B. (1968). Le syndrome dit de 'Turner male'. Archives FranVaises de Pediatrie, 25, 511-530.","journal-title":"Archives FranVaises de Pediatrie"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1161\/01.CIR.45.3.639","article-title":"Eccentric ventricular hypertrophy in familial and sporadic instances of 46 XX, XY Turner phenotype","volume":"45","author":"Ehlers, K.H.; Engle, M.A.; Levin, A.R.; Deely, W.J.","year":"1972","unstructured":"Ehlers, K. H., Engle, M. A., Levin, A. R., and Deely, W. J. (1972). Eccentric ventricular hypertrophy in familial and sporadic instances of 46 XX, XY Turner phenotype. Circulation, 45, 639-652.","journal-title":"Circulation"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1161\/01.CIR.36.6.886","article-title":"Chromosomal abnormalities and congenital heart disease","volume":"36","author":"Emerit, I.; De Grouchy, J.; Vernant, P.; Corone, P.","year":"1967","unstructured":"Emerit, I., De Grouchy, J., Vernant, P., and Corone, P. (1967). Chromosomal abnormalities and congenital heart disease. Circulation, 36, 886-905.","journal-title":"Circulation"},{"key":"ref_7","first-page":"711","article-title":"A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome)","volume":"1","author":"Ford, C.E.; Jones, K.W.; Polani, P.E.; de Almeida, J.C.; Briggs, J.H.","year":"1959","unstructured":"Ford, C. E., Jones, K. W., Polani, P. E., de Almeida, J. C., and Briggs, J. H. (1959). A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's syndrome). Lancet, 1, 711-713.","journal-title":"Lancet"},{"key":"ref_8","first-page":"885","article-title":"Congenital anomalies associated with gonadal aplasia: review of 55 cases","volume":"23","author":"Haddad, H.M.; Wilkins, L.","year":"1959","unstructured":"Haddad, H. M., and Wilkins, L. (1959). Congenital anomalies associated with gonadal aplasia: review of 55 cases. Pediatrics, 23, 885-902.","journal-title":"Pediatrics"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1161\/01.CIR.52.6.1161","article-title":"Rapidly progressive obstructive cardiomyopathy in infants with Noonan's syndrome","volume":"52","author":"Hirsch, H.D.; Gelband, H.; Garcia, O.; Gottlieb, S.; Tamer, D.M.","year":"1975","unstructured":"Hirsch, H. D., Gelband, H., Garcia, O., Gottlieb, S., and Tamer, D. M. (1975). Rapidly progressive obstructive cardiomyopathy in infants with Noonan's syndrome. Circulation, 52, 1161-1165.","journal-title":"Circulation"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1161\/01.CIR.40.1.43","article-title":"Congenital pulmonary stenosis resulting from dysplasia of valve","volume":"40","author":"Koretzky, E.D.; Moller, J.H.; Korns, M.E.; Schwartz, C.J.; Edwards, J.E.","year":"1969","unstructured":"Koretzky, E. D., Moller, J. H., Korns, M. E., Schwartz, C. J., and Edwards, J. E. (1969). Congenital pulmonary stenosis resulting from dysplasia of valve. Circulation, 40, 43-53.","journal-title":"Circulation"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"943","DOI":"10.1016\/0002-9343(65)90014-8","article-title":"Ullrich-Turner syndrome associated with cystic medial necrosis of the aorta and great vessels","volume":"38","author":"Kostich, N.D.; Opitz, J.M.","year":"1965","unstructured":"Kostich, N. D., and Opitz, J. M. (1965). Ullrich-Turner syndrome associated with cystic medial necrosis of the aorta and great vessels. American Journal of Medicine, 38, 943-950.","journal-title":"American Journal of Medicine"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/S0022-3476(63)80368-6","article-title":"The XO syndrome: a study of the differentiated phenotype in 25 patients","volume":"63","author":"Lemli, L.; Smith, D.W.","year":"1963","unstructured":"Lemli, L., and Smith, D. W. (1963). The XO syndrome: a study of the differentiated phenotype in 25 patients. Journal of Pediatrics, 63, 577-588.","journal-title":"Journal of Pediatrics"},{"key":"ref_13","first-page":"301","article-title":"Pulmonary valvular dysplasia: a cardiofacial syndrome","volume":"35","author":"Linde, L.M.; Turner, S.W.; Sparkes, R.S.","year":"1973","unstructured":"Linde, L. M., Turner, S. W., and Sparkes, R. S. (1973). Pulmonary valvular dysplasia: a cardiofacial syndrome. British Heart_Journal, 35, 301-304.","journal-title":"British Heart_Journal"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1001\/archpedi.1968.02100020377005","article-title":"Hypertelorism with Turner phenotype: a new syndrome with associated congenital heart disease","volume":"116","author":"Noonan, J.A.","year":"1968","unstructured":"Noonan, J. A. (1968). Hypertelorism with Turner phenotype: a new syndrome with associated congenital heart disease. American Journal of Diseases of Children, 116, 373-380.","journal-title":"American Journal of Diseases of Children"},{"key":"ref_15","first-page":"468","article-title":"Associated noncardiac malformations in children with congenital heart disease (abstract)","volume":"63","author":"Noonan, J.A.; Ehmke, D.A.","year":"1963","unstructured":"Noonan, J. A., and Ehmke, D. A. (1963). Associated noncardiac malformations in children with congenital heart disease (abstract). Journal of Pediatrics, 63, 468-470.","journal-title":"Journal of Pediatrics"},{"key":"ref_16","author":"Nora, J.J.; Lortscher, R.H.; Spangler, R.D.","year":"1975","unstructured":"Nora, J. J., Lortscher, R. H., and Spangler, R. D. (1975)."},{"key":"ref_17","first-page":"1417","article-title":"Echocardiographic studies of left ventricular disease in Ullrich-Noonan syndrome","volume":"129","unstructured":"Echocardiographic studies of left ventricular disease in Ullrich-Noonan syndrome. American Journal of Diseases of Children, 129, 1417-1420.","journal-title":"American Journal of Diseases of Children"},{"key":"ref_18","first-page":"48","article-title":"The Ullrich-Noonan syndrome (Turner phenotype)","volume":"127","author":"Nora, J.J.; Nora, A.H.; Sinha, A.K.; Spangler, R.D.; Lubs, H.A.","year":"1974","unstructured":"Nora, J. J., Nora, A. H., Sinha, A. K., Spangler, R. D., and Lubs, H. A. (1974). The Ullrich-Noonan syndrome (Turner phenotype). American Journal of Diseases of Children, 127, 48-55.","journal-title":"American Journal of Diseases of Children"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1016\/S0140-6736(67)92322-7","article-title":"Hereditary Turner phenotypes","volume":"2","author":"Nora, J.J.; Sinha, A.K.","year":"1967","unstructured":"Nora, J. J., and Sinha, A. K. (1967). Hereditary Turner phenotypes. Lancet, 2, 256-257.","journal-title":"Lancet"},{"key":"ref_20","first-page":"119","article-title":"Dominant inheritance of the Noonan syndrome","volume":"8","author":"Nora, J.J.; Sinha, A.K.; Nora, A.H.","year":"1972","unstructured":"Nora, J. J., Sinha, A. K., and Nora, A. H. (1972). Dominant inheritance of the Noonan syndrome. Birth Defects, 8, 119-121.","journal-title":"Birth Defects"},{"key":"ref_21","article-title":"Characteristic cardiovascular anomalies of XO Turner syndrome, XX and XY phenotype, and XO\/XX","author":"Nora, J.J.; Torres, F.G.; Sinha, A.K.; McNamara, D.G.","year":"1970","unstructured":"Nora, J. J., Torres, F. G., Sinha, A. K., and McNamara, D. G. (1970). Characteristic cardiovascular anomalies of XO Turner syndrome, XX and XY phenotype, and XO\/XX"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1136\/hrt.35.1.99","article-title":"Cardiomyopathy in Noonan's syndrome: report of three cases","volume":"35","author":"Phornphutkul, C.; Rosenthal, A.; Nadas, A.S.","year":"1973","unstructured":"Phornphutkul, C., Rosenthal, A., and Nadas, A. S. (1973). Cardiomyopathy in Noonan's syndrome: report of three cases. British Heart_Journal, 35, 99-102.","journal-title":"British Heart_Journal"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1016\/S0140-6736(56)90865-0","article-title":"Colour-blindness in 'ovarian agenesis'","volume":"2","author":"Polani, P.E.; Lessof, M.H.; Bishop, P.M.","year":"1956","unstructured":"Polani, P. E., Lessof, M. H., and Bishop, P. M. (1956). Colour-blindness in 'ovarian agenesis' (gonadal dysplasia). Lancet, 2, 118-121.","journal-title":"(gonadal dysplasia). Lancet"},{"key":"ref_24","first-page":"919","article-title":"Cardiovascular malformations in Turner's syndrome","volume":"33","author":"Rainier-Pope, C.R.; Cunningham, R.D.; Nadas, A.S.; Crigler, Jr, J.F.","year":"1964","unstructured":"Rainier-Pope, C. R., Cunningham, R. D., Nadas, A. S., and Crigler, J. F., Jr. (1964). Cardiovascular malformations in Turner's syndrome. Pediatrics, 33, 919-925.","journal-title":"Pediatrics"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1136\/hrt.34.1.41","article-title":"Congenital heart disease in male and female subjects with somatic features of Turner's syndrome and normal sex chromosomes (Ullrich's and related syndromes)","volume":"34","author":"Siggers, D.C.; Polani, P.E.","year":"1972","unstructured":"Siggers, D. C., and Polani, P. E. (1972). Congenital heart disease in male and female subjects with somatic features of Turner's syndrome and normal sex chromosomes (Ullrich's and related syndromes). British Heart_Journal, 34, 41-46.","journal-title":"British Heart_Journal"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/0002-8703(75)90432-9","article-title":"Systolic prolapse of the mitral valve in Noonan's syndrome","volume":"90","author":"Towne, W.D.; Fabian, J.S.; Rosen, K.M.; Rahimtoola, S.H.","year":"1975","unstructured":"Towne, W. D., Fabian, J. S., Rosen, K. M., and Rahimtoola, S. H. (1975). Systolic prolapse of the mitral valve in Noonan's syndrome. American Heart Journal, 90, 499-502.","journal-title":"American Heart Journal"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"566","DOI":"10.1210\/endo-23-5-566","article-title":"A syndrome of infantilism, congenital webbed neck and cubitus valgus","volume":"23","author":"Turner, H.H.","year":"1938","unstructured":"Turner, H. H. (1938). A syndrome of infantilism, congenital webbed neck and cubitus valgus. Endocrinology, 23, 566-574.","journal-title":"Endocrinology"},{"key":"ref_28","first-page":"271","article-title":"Ueber typische Kombinationsbilder multipler","volume":"49","author":"Ullrich, 0","year":"1930","unstructured":"Ullrich, 0. (1930). Ueber typische Kombinationsbilder multipler Abartungen. Zeitschrift fur Kinderheilkunde, 49, 271-276."},{"key":"ref_29","article-title":"Het zogenaamde Syndroom van Turner. Thesis Leuven","author":"Van den Berghe, H.","year":"1966","unstructured":"Van den Berghe, H. (1966). Het zogenaamde Syndroom van Turner. Thesis Leuven. Standaard Wetenschappelijke Uitgeverij, Antwerpen."},{"key":"ref_30","first-page":"850","article-title":"Le cceur dans le syndrome de TurnerUllrich","volume":"59","author":"Vernant, P.; Corone, P.; Grouchy, J.; Gennes, J.L.; Emerit, I.","year":"1966","unstructured":"Vernant, P., Corone, P., Grouchy, J., Gennes, J. L., and Emerit, I. (1966). Le cceur dans le syndrome de TurnerUllrich. Archives des Maladies du Coeur et des Vaisseaux, 59, 850-875.","journal-title":"Archives des Maladies du Coeur et des Vaisseaux"},{"key":"ref_31","first-page":"367","article-title":"Noonan's syndrome and Ebstein's malformation of the tricuspid valve","volume-title":"American J7ournal of Diseases of Children","volume":"116","author":"Wright, N.L.; Summitt, R.L.; Ainger, L.E.","year":"1968","unstructured":"Wright, N. L., Summitt, R. L., and Ainger, L. E. (1968). Noonan's syndrome and Ebstein's malformation of the tricuspid valve. American J7ournal of Diseases of Children, 116, 367-372."}],"container-title":["Heart"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/hrt.40.5.500","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,9,26]],"date-time":"2020-09-26T00:49:43Z","timestamp":1601081383000},"score":1,"resource":{"primary":{"URL":"https:\/\/heart.bmj.com\/lookup\/doi\/10.1136\/hrt.40.5.500"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,5,1]]},"references-count":31,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1978,5,1]]}},"URL":"https:\/\/doi.org\/10.1136\/hrt.40.5.500","relation":{},"ISSN":["1355-6037"],"issn-type":[{"value":"1355-6037","type":"print"}],"subject":[],"published":{"date-parts":[[1978,5,1]]}}}