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Volumn 14, Issue 2, 2005, Pages 97-100

3C syndrome with cryptorchidism and posterior embryotoxon

Author keywords

3C syndrome; Cranio cerebello cardiac syndrome; Cryptorchidism; Posterior embryotoxon; Ritscher Schinzel syndrome; Wormian bones of the skull

Indexed keywords

3C SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBELLUM DISEASE; CHROMOSOME ANALYSIS; CONGENITAL HEART DISEASE; CRANIOFACIAL MALFORMATION; CRYPTORCHISM; DANDY WALKER SYNDROME; DEVELOPMENTAL DISORDER; EYE MALFORMATION; HUMAN; INFANT; KARYOTYPE 46,XX; MALE; POSTERIOR EMBRYOTOXON; PRIORITY JOURNAL; RITSCHER SCHINZEL SYNDROME; SYNDROME; UROGENITAL TRACT MALFORMATION;

EID: 16444365831     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200504000-00009     Document Type: Article
Times cited : (8)

References (17)
  • 3
    • 0028023704 scopus 로고
    • 3C (cranio-cerebello-cardiac) syndrome: A recently delineated and easily recognizable congenital malformation syndrome
    • Hoo JJ, Kreiter M, Haverson N, Perszyk A (1994). 3C (cranio-cerebello- cardiac) syndrome: a recently delineated and easily recognizable congenital malformation syndrome. Am J Med Genet 52:66-69.
    • (1994) Am J Med Genet , vol.52 , pp. 66-69
    • Hoo, J.J.1    Kreiter, M.2    Haverson, N.3    Perszyk, A.4
  • 4
    • 0031028433 scopus 로고    scopus 로고
    • Ritscher-Schinzel (3C) syndrome: Documentation of the phenotype
    • Kosaki K, Curry CJ, Roeder E, Jones KL (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.J.2    Roeder, E.3    Jones, K.L.4
  • 5
    • 0035882375 scopus 로고    scopus 로고
    • Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: Report of four new cases and review
    • Leonardi ML, Pai GS, Wilkes B, Lebel RR (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.L.1    Pai, G.S.2    Wilkes, B.3    Lebel, R.R.4
  • 6
    • 0029907485 scopus 로고    scopus 로고
    • 'Shifted' threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes: 3C (Ritscher-Schinzel) syndrome as an example
    • Lurie IW, Ferencz C (1996). 'Shifted' threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes: 3C (Ritscher-Schinzel) syndrome as an example. Am J Med Genet 66: 72-74.
    • (1996) Am J Med Genet , vol.66 , pp. 72-74
    • Lurie, I.W.1    Ferencz, C.2
  • 7
    • 0004376332 scopus 로고
    • Unusual features in a neonate with 3C (cranio-cerebello-cardiac) syndrome
    • Marazzo DP, Mulvihill JJ (1995). Unusual features in a neonate with 3C (cranio-cerebello-cardiac) syndrome. Am J Hum Genet (suppl) 57:96.
    • (1995) Am J Hum Genet (Suppl) , vol.57 , pp. 96
    • Marazzo, D.P.1    Mulvihill, J.J.2
  • 9
    • 0024329244 scopus 로고
    • 3C syndrome: Another case
    • Mims LC, Say B (1989). 3C syndrome: Another case. Clin Genet 36:465.
    • (1989) Clin Genet , vol.36 , pp. 465
    • Mims, L.C.1    Say, B.2
  • 10
    • 16444380510 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man (OMIM). (http://www.ncbi.nlm.nih.gov/ entrez/query.fcgi?db=OMIM&itool=toolbar).
  • 11
  • 12
    • 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
  • 15
    • 0024521568 scopus 로고
    • 3C syndrome: Third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome)
    • Verloes A, Dresse M-F, Jovanonic M, Dodinval P, Geubelle F (1989). 3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome). Clin Genet 35:205-208.
    • (1989) Clin Genet , vol.35 , pp. 205-208
    • Verloes, A.1    Dresse, M.-F.2    Jovanonic, M.3    Dodinval, P.4    Geubelle, F.5
  • 16
    • 0033527767 scopus 로고    scopus 로고
    • The 3C syndrome: Evolution of the phenotype and growth hormone deficiency
    • Wheeler PG, Sadeghi-Nejad A, Elias EA (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.G.1    Sadeghi-Nejad, A.2    Elias, E.A.3
  • 17
    • 0028009787 scopus 로고
    • Another case of Ritscher-Schinzel syndrome: Cranio-cerebello-cardiac dysplasia (3C syndrome) with associated bilateral colobomata
    • Worle H, Levin MAG, Holler M, Bastanier CK, Kohler B (1994). Another case of Ritscher-Schinzel syndrome: cranio-cerebello-cardiac dysplasia (3C syndrome) with associated bilateral colobomata. Eur J Pediatr 153:140-142.
    • (1994) Eur J Pediatr , vol.153 , pp. 140-142
    • Worle, H.1    Levin, M.A.G.2    Holler, M.3    Bastanier, C.K.4    Kohler, B.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.