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

Fatma Nur Sarı; Evrim Alyamaç Dizdar; Suna Oğuz; Uğur Dilmen

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

Yıl 2013, Cilt: 7 Sayı: 1, 50 - 52, 01.04.2013

Fatma Nur Sarı Evrim Alyamaç Dizdar Suna Oğuz Uğur Dilmen

Öz

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.

Anahtar Kelimeler

Hipospadias, Kraniyo-serebello-kardiyak sendrom, 3C sendromu

Kaynakça

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.

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

Yıl 2013, Cilt: 7 Sayı: 1, 50 - 52, 01.04.2013

Fatma Nur Sarı Evrim Alyamaç Dizdar Suna Oğuz Uğur Dilmen

Öz

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

Anahtar Kelimeler

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

Kaynakça

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.

Toplam 13 adet kaynakça vardır.

Ayrıntılar

Diğer ID	JA82KU96EP
Bölüm	Case Report
Yazarlar	Fatma Nur Sarı Bu kişi benim Evrim Alyamaç Dizdar Bu kişi benim Suna Oğuz Uğur Dilmen Bu kişi benim
Yayımlanma Tarihi	1 Nisan 2013
Gönderilme Tarihi	1 Nisan 2013
Yayımlandığı Sayı	Yıl 2013 Cilt: 7 Sayı: 1

Kaynak Göster

Vancouver	Sarı FN, Dizdar EA, Oğuz S, Dilmen U. 3C (Ritscher-Schinzel) Syndrome with a Rare Sign: Hypospadias. Türkiye Çocuk Hast Derg. 2013;7(1):50-2.