3C (Ritscher-Schinzel) Syndrome with a Rare Sign: Hypospadias

Volume: 7 Number: 1 April 1, 2013
  • Fatma Nur Sarı
  • Evrim Alyamaç Dizdar
  • Suna Oğuz
  • Uğur Dilmen
TR EN

3C (Ritscher-Schinzel) Sendromunda Nadir Görülen Bir Bulgu: Hipospadias

Abstract

Ritscher–Schinzel veya kraniyo-serebello-kardiyak sendrom olarak da adlandırılan 3C sendromu nadir görülen, otozomal resesif geçişli kraniyofasiyal, serebellar ve kardiyak anomalilerle karakterize bir sendromdur. Burada 3C sendromunda nadir bir bulgu olarak hipospadiası olan bir olgu sunulmaktadır.

Keywords

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.

Details

Primary Language

English

Subjects

-

Journal Section

-

Authors

Fatma Nur Sarı This is me

Evrim Alyamaç Dizdar This is me

Uğur Dilmen This is me

Publication Date

April 1, 2013

Submission Date

April 1, 2013

Acceptance Date

-

Published in Issue

Year 2013 Volume: 7 Number: 1

APA
Sarı, F. N., Dizdar, E. A., Oğuz, S., & Dilmen, U. (2013). 3C (Ritscher-Schinzel) Syndrome with a Rare Sign: Hypospadias. Türkiye Çocuk Hastalıkları Dergisi, 7(1), 50-52. https://izlik.org/JA23EY87EM
AMA
1.Sarı FN, Dizdar EA, Oğuz S, Dilmen U. 3C (Ritscher-Schinzel) Syndrome with a Rare Sign: Hypospadias. Turkish J Pediatr Dis. 2013;7(1):50-52. https://izlik.org/JA23EY87EM
Chicago
Sarı, Fatma Nur, Evrim Alyamaç Dizdar, Suna Oğuz, and Uğur Dilmen. 2013. “3C (Ritscher-Schinzel) Syndrome With a Rare Sign: Hypospadias”. Türkiye Çocuk Hastalıkları Dergisi 7 (1): 50-52. https://izlik.org/JA23EY87EM.
EndNote
Sarı FN, Dizdar EA, Oğuz S, Dilmen U (April 1, 2013) 3C (Ritscher-Schinzel) Syndrome with a Rare Sign: Hypospadias. Türkiye Çocuk Hastalıkları Dergisi 7 1 50–52.
IEEE
[1]F. N. Sarı, E. A. Dizdar, S. Oğuz, and U. Dilmen, “3C (Ritscher-Schinzel) Syndrome with a Rare Sign: Hypospadias”, Turkish J Pediatr Dis, vol. 7, no. 1, pp. 50–52, Apr. 2013, [Online]. Available: https://izlik.org/JA23EY87EM
ISNAD
Sarı, Fatma Nur - Dizdar, Evrim Alyamaç - Oğuz, Suna - Dilmen, Uğur. “3C (Ritscher-Schinzel) Syndrome With a Rare Sign: Hypospadias”. Türkiye Çocuk Hastalıkları Dergisi 7/1 (April 1, 2013): 50-52. https://izlik.org/JA23EY87EM.
JAMA
1.Sarı FN, Dizdar EA, Oğuz S, Dilmen U. 3C (Ritscher-Schinzel) Syndrome with a Rare Sign: Hypospadias. Turkish J Pediatr Dis. 2013;7:50–52.
MLA
Sarı, Fatma Nur, et al. “3C (Ritscher-Schinzel) Syndrome With a Rare Sign: Hypospadias”. Türkiye Çocuk Hastalıkları Dergisi, vol. 7, no. 1, Apr. 2013, pp. 50-52, https://izlik.org/JA23EY87EM.
Vancouver
1.Fatma Nur Sarı, Evrim Alyamaç Dizdar, Suna Oğuz, Uğur Dilmen. 3C (Ritscher-Schinzel) Syndrome with a Rare Sign: Hypospadias. Turkish J Pediatr Dis [Internet]. 2013 Apr. 1;7(1):50-2. Available from: https://izlik.org/JA23EY87EM


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