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