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.
References
- 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.
- 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.
- 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.
- Craft E, Wildig CE, Crow YJ. 3C syndrome. Am J Med Genet A 2010;152A:1026-7.
- 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.
- Türkiye Çocuk Hast Derg/Turkish J Pediatr Dis / 2013; 1: 50-52
- 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.
- DeScipio C. The 6p subtelomere deletion syndrome. Am J Med Genet C Semin Med Genet 2007;145C:377-82.
- 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.
- Squires LA, Raymond G, Neumeyer AM, Krishnamoorthy KS, Buyse ML. Dysmorphic features of Joubert syndrome. Dysmorphol Clin Genet 1991;4:72-7.
- 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.
- Kosaki K, Curry CJ, Roeder E, Jones KL. Ritscher-Schinzel (3C) syndrome: Documentation of the phenotype. Am J Med Genet 1997;68:421-27.
- 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.
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
References
- 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.
- 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.
- 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.
- Craft E, Wildig CE, Crow YJ. 3C syndrome. Am J Med Genet A 2010;152A:1026-7.
- 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.
- Türkiye Çocuk Hast Derg/Turkish J Pediatr Dis / 2013; 1: 50-52
- 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.
- DeScipio C. The 6p subtelomere deletion syndrome. Am J Med Genet C Semin Med Genet 2007;145C:377-82.
- 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.
- Squires LA, Raymond G, Neumeyer AM, Krishnamoorthy KS, Buyse ML. Dysmorphic features of Joubert syndrome. Dysmorphol Clin Genet 1991;4:72-7.
- 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.
- Kosaki K, Curry CJ, Roeder E, Jones KL. Ritscher-Schinzel (3C) syndrome: Documentation of the phenotype. Am J Med Genet 1997;68:421-27.
- 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.
Details
| Other ID | JA82KU96EP |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | April 1, 2013 |
| Submission Date | April 1, 2013 |
| Published in Issue | Year 2013 Volume: 7 Issue: 1 |
The publication language of Turkish Journal of Pediatric Disease is English.
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