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Volumn 118 A, Issue 1, 2003, Pages 55-59

Cranio-cerebello-cardiac (3C) syndrome: Follow-up study of the original patient

Author keywords

3C syndrome; Dandy Walker malformation; Long term prognosis; Outcome; Ritscher Schinzel syndrome

Indexed keywords

ADULT; ARTICLE; B LYMPHOCYTE; BRAIN MALFORMATION; CASE REPORT; CONGENITAL HEART MALFORMATION; CRANIOCEREBELLOCARDIAC SYNDROME; CRANIOFACIAL MALFORMATION; DANDY WALKER SYNDROME; FEMALE; FOLLOW UP; HUMAN; IMMUNE DEFICIENCY; IMMUNOGLOBULIN G DEFICIENCY; MALFORMATION SYNDROME; MENTAL DEVELOPMENT; PRIORITY JOURNAL; RITSCHER SCHINZEL SYNDROME;

EID: 0041820103     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10233     Document Type: Article
Times cited : (8)

References (12)
  • 1
    • 0019414141 scopus 로고
    • Intestinal clearance of alpha 1-antitrypsin. A sensitive method for the detection of protein-losing enteropathy
    • Florent C, L'Hirondel C, Desmazures C, Aymes C, Bernier J. 1981. Intestinal clearance of alpha 1-antitrypsin. A sensitive method for the detection of protein-losing enteropathy. Gastroenterology 81:777-780.
    • (1981) Gastroenterology , vol.81 , pp. 777-780
    • Florent, C.1    L'Hirondel, C.2    Desmazures, C.3    Aymes, C.4    Bernier, J.5
  • 3
    • 0038496078 scopus 로고    scopus 로고
    • Circumscribed intestinal protein loss with deficiency in CD4+ lymphocytes after the Fontan procedure
    • Koch A, Hofbeck M, Feistel H, Buheitel G, Singer H. 1999. Circumscribed intestinal protein loss with deficiency in CD4+ lymphocytes after the Fontan procedure. Eur J Pediatr 158:847-850.
    • (1999) Eur J Pediatr , vol.158 , pp. 847-850
    • Koch, A.1    Hofbeck, M.2    Feistel, H.3    Buheitel, G.4    Singer, H.5
  • 4
    • 0031028433 scopus 로고    scopus 로고
    • Ritscher-Schinzel (3C) syndrome: Documentation of the phenotype
    • Kosaki K, Curry C, Roeder E, Jones K. 1997. Ritscher-Schinzel (3C) syndrome: documentation of the phenotype. Am J Med Genet 68:421-427.
    • (1997) Am J Med Genet , vol.68 , pp. 421-427
    • Kosaki, K.1    Curry, C.2    Roeder, E.3    Jones, K.4
  • 5
    • 0024678562 scopus 로고
    • Immunodeficiency associated with Dandy-Walker-like malformation, congenital heart defect, and craniofacial abnormalities
    • Lauener R, Seger R, Joerg W, Halle F, Schinzel A. 1989. Immunodeficiency associated with Dandy-Walker-like malformation, congenital heart defect, and craniofacial abnormalities. Am J Med Genet 33:280-281.
    • (1989) Am J Med Genet , vol.33 , pp. 280-281
    • Lauener, R.1    Seger, R.2    Joerg, W.3    Halle, F.4    Schinzel, A.5
  • 6
    • 0035882375 scopus 로고    scopus 로고
    • Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: Report of four new cases and review
    • Leonardi M, Pai G, Wilkes B, Lebel R. 2001. Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review. Am J Med Genet 102:237-242.
    • (2001) Am J Med Genet , vol.102 , pp. 237-242
    • Leonardi, M.1    Pai, G.2    Wilkes, B.3    Lebel, R.4
  • 8
    • 0022889651 scopus 로고
    • Dandy-Walker (like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: A new syndrome?
    • Ritscher D, Schinzel A, Boltshauser E, Briner J, Arbenz U, Sigg P. 1987. Dandy-Walker (like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome? Am J Med Genet 26:481-491.
    • (1987) Am J Med Genet , vol.26 , pp. 481-491
    • Ritscher, D.1    Schinzel, A.2    Boltshauser, E.3    Briner, J.4    Arbenz, U.5    Sigg, P.6
  • 9
    • 0025968054 scopus 로고
    • Protein-losing enteropathy following the Fontan operation: Resolution with prednisone therapy
    • Rothman A, Snyder L. 1991. Protein-losing enteropathy following the Fontan operation: resolution with prednisone therapy. Am Heart J 121:618-619.
    • (1991) Am Heart J , vol.121 , pp. 618-619
    • Rothman, A.1    Snyder, L.2
  • 10
    • 0001824606 scopus 로고
    • Growth and endocrinology of the adolescent
    • Gardner A, editor. Philadelphia: W.B. Saunders
    • Tanner JM. 1975. Growth and endocrinology of the adolescent. In: Gardner A, editor. Endocrine and genetic disease in childhood, 2nd ed. Philadelphia: W.B. Saunders.
    • (1975) Endocrine and Genetic Disease in Childhood, 2nd Ed.
    • Tanner, J.M.1
  • 11
    • 0024521568 scopus 로고
    • 3C Syndrome: Third occurence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome)
    • Verloes A, Jovanovic M, Dodinval P, Geubelle F. 1989. 3C Syndrome: third occurence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome). Clin Genet 35:205-208.
    • (1989) Clin Genet , vol.35 , pp. 205-208
    • Verloes, A.1    Jovanovic, M.2    Dodinval, P.3    Geubelle, F.4
  • 12
    • 0033527767 scopus 로고    scopus 로고
    • The 3C syndrome: Evolution of the phenotype and growth hormone deficiency
    • Wheeler P, Sadeghi-Nejad A, Elias E. 1999. The 3C syndrome: evolution of the phenotype and growth hormone deficiency. Am J Med Genet 87:61-64.
    • (1999) Am J Med Genet , vol.87 , pp. 61-64
    • Wheeler, P.1    Sadeghi-Nejad, A.2    Elias, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.