Hypertelorism With Turner Phenotype

作者: Jacqueline A. Noonan

DOI: 10.1001/ARCHPEDI.1968.02100020377005

关键词:

摘要: AT THE meeting of the Mid-Western Society for Pediatric Research in 1962, I reported on nine patients with remarkably similar facies a previously unrecognized syndrome valvular pulmonary stenosis and multiple extra cardiac anomalies.1Review literature at that time showed several males resembling these had been under different headings, most commonly designation of, "the male Turner syndrome."2-5There were no definite reports similarly affected female patients. In report spoke terms "new syndrome" order to stress this condition could affect not only but also females, it was clinically etiologically from true Turner6syndrome. Since time, further eight patients, five three associated lesions have studied. An additional two one each sex,

参考文章(21)
K.-H. GUSTAVSON, B. HAGBERG, H. KNUTSON, S. SJÖLIN, THE PTERYGIUM-COLLI SYNDROME IN THE MALE. A CLINICAL, HISTOLOGICAL, AND CYTOGENETIC STUDY OF TWO CASES. Acta Paediatrica. ,vol. 53, pp. 454- 464 ,(1964) , 10.1111/J.1651-2227.1964.TB07251.X
Richard Neu, Lytt I. Gardner, Robert J. Schlegel, Manuel J. Aspillaga, STUDIES ON A BOY WITH XXYY CHROMOSOME CONSTITUTION. Pediatrics. ,vol. 36, pp. 113- 119 ,(1965)
Richard Desmond Rowe, John Dow Keith, Peter Vlad, Heart disease in infancy and childhood Macmillan. ,(1978)
Paul Hamilton Wood, Diseases of the Heart and Circulation ,(1968)
Alexander S. Nadas, John F. Crigler, Christopher R. Rainier-Pope, Russell D. Cunningham, CARDIOVASCULAR MALFORMATIONS IN TURNER'S SYNDROME Pediatrics. ,vol. 33, pp. 919- 925 ,(1964)
Lawson Wilkins, Heskel M. Haddad, Congenital anomalies associated with gonadal aplasia; review of 55 cases. Pediatrics. ,vol. 23, pp. 885- 902 ,(1959)
M. Fraccaro, D. Ikkos, J. Lindsten, R. Luft, K. G. Tillinger, TESTICULAR GERMINAL DYSGENESIS (MALE TURNER'S SYNDROME) European Journal of Endocrinology. ,vol. 36, pp. 98- 114 ,(1961) , 10.1530/ACTA.0.0360098
Luc Lemli, David W. Smith, The XO syndrome: A study of the differentiated phenotype in 25 patients The Journal of Pediatrics. ,vol. 63, pp. 577- 588 ,(1963) , 10.1016/S0022-3476(63)80368-6
Geoffrey Flavell, Webbing of the neck, with turner's syndrome in the male British Journal of Surgery. ,vol. 31, pp. 150- 153 ,(2005) , 10.1002/BJS.18003112208
Richard H. Heller, The Turner Phenotype In The Male The Journal of Pediatrics. ,vol. 66, pp. 48- 63 ,(1965) , 10.1016/S0022-3476(65)80337-7