Abstract

The 3C syndrome, also known as the Ritscher–Schinzel or cranio-cerebello-cardiac syndrome, is an autosomal recessive disorder characterized by craniofacial, cerebellar and cardiac anomalies. We herein report a 3C syndrome case with hypopadias as a rare sign

Keywords: Hypospadias, Cranio-cerebello-cardiac syndrome, 3C syndrome

References

  1. Ritscher D, Schinzel A, Boltshouser E, Briner J, Arbenz U, Sigg P. 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 1987;26:481-91.
  2. Verloes A, Dresse MF, Jovanovic M, Dodinval P, Geubelle F. 3C syndrome: Third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome). Clin Genet 1989;35:205-08.
  3. Leonardi ML, Pai GS, Wilkes B, Lebel RR. Ritscher–Schinzel craniocerebello-cardiac (3C) syndrome: Report of four new cases and review. Am J Med Genet 2001;102:237–42.
  4. Craft E, Wildig CE, Crow YJ. 3C syndrome. Am J Med Genet A 2010;152A:1026-7.
  5. Saraiva JM, Gama E, Moreira Pires M, Sequeira JF. First report of glaucoma as a feature of the 3C syndrome. Clin Dysmorphol 1995;4:156-60.
  6. Türkiye Çocuk Hast Derg/Turkish J Pediatr Dis / 2013; 1: 50-52
  7. Wheeler PG, Sadeghi-Nejad A, Elias ER. The 3C syndrome: Evolution of the phenotype and growth hormone deficiency. Am J Med Genet 1999;87:61-4.
  8. DeScipio C. The 6p subtelomere deletion syndrome. Am J Med Genet C Semin Med Genet 2007;145C:377-82.
  9. Descipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, et al. Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. Am J Med Genet A 2005;134A:3-11.
  10. Squires LA, Raymond G, Neumeyer AM, Krishnamoorthy KS, Buyse ML. Dysmorphic features of Joubert syndrome. Dysmorphol Clin Genet 1991;4:72-7.
  11. Rusnak AJ, Hadfield MI, Chudley AE, Marles SL, Reid GJ, Chodirker BN. Increased nuchal translucency thickness: a potential indicator for Ritscher-Schinzel syndrome. Fetal Diagn Ther 2008;24:395-9.
  12. Kosaki K, Curry CJ, Roeder E, Jones KL. Ritscher-Schinzel (3C) syndrome: Documentation of the phenotype. Am J Med Genet 1997;68:421-27.
  13. Digilio MC, Marino B, Giannotti A, Mingarelli R, Dallapiccola B. Atrioventricular canal and 3C (Cranio-cerebello-cardiac) syndrome. Am J Med Genet 1995;58:97-8.

Copyright and license

Copyright © 2013 The Author(s). This is an open access article distributed under the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium or format, provided the original work is properly cited.

How to cite

1.
Sarı FN, Dizdar EA, Oğuz S, Dilmen U. 3C (Ritscher-Schinzel) Syndrome with a Rare Sign: Hypospadias. Turk J Pediatr Dis [Internet]. 2013 Apr. 1 [cited 2025 Jul. 8];7(1):50-2. Available from: https://turkjpediatrdis.org/article/view/252