Ritscher-Schinzel sendromu

 

  • Ritscher-Schinzel sendromu 1

Cranio-cerebello-cardiac sendrom (3C)

Kalıtsal - AR

Gelişme geriliği (büyüme hormone eksikliği)

Düşük kulaklar

Hipertelorizm

Gözlerde koloboma

Çekik gözler

Basık burun sırtı

Çıkıntılı artkafa

Mikrognati

Damak yarığı

Kardiyovasküler bulgular: Fallot tetralojisi, septum defektleri, sol kalp hipoplazisi, kapak anomalileri (stenozlar)

Beyinde Dandy-Walker malformasyonu

Hipotoni

Hidronefroz

Sindaktili

Adrenal hipoplazisi

Psikomotor gerilik

Göbek kordonunda tek arter

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  • Ritscher-Schinzel sendromu 2

Kalıtsal - XLR

Gelişme geriliği

Makrokranyum

Ense kalın

Geniş alın

Hipertelorizm

Filtrum kısa

Makroglossi

Kalpte septum defektleri

Beyinde Dandy-Walker malformasyonu

Hipotoni

Psikomotor gerilik

Parmak anomalileri

Skolyoz

 

  • Wheeler PG, Sadeghi-Nejad A, Elias ER. The 3C syndrome: evolution of the phenotype and growth hormone deficiency. American Journal of Medical Genetics, 87: 61-64, 1999

  • Leonardi ML, Shashidhar Pai G, Wilkes B, Robert Roger Lebel RR. Ritscher-Schinzel Cranio-Cerebello-Cardiac (3C) Syndrome: Report of Four New Cases and Review. American Journal of Medical Genetics, 102:237-242, 2001

  • Craft E, Wildig CE, Crow YJ. 3C syndrome (Letter) American Journal of Medical Genetics, 152A: 1026-1027, 2010

  • Seidahmed MZ, Alkuraya FS, Shaheed M, et al. Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: report of four new cases with renal involvement. Americam Journal of Medical Genetics A, 155A: 1393-1397, 2011

  • Voineagu I, Huang L, Winden K, et al. CCDC22: a novel candidate gene for syndromic X-linked intellectual disability (Letter). Molecular Psychiatry, 17: 4-7, 2012

  • Elliott AM, Simard L., Coghlan G, et al. A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort. Journal of Medical Genetics, 50: 819-822, 2013

  • Kolanczyk M, Krawitz P, Hecht J, et al. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. European Journal of Human Genetics, 23: 633-638, 2015 (Erratum: European Journal of Human Genetics, 23: 720, 2015

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