Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay
Yıl: 2020 Cilt: 62 Sayı: 3 Sayfa Aralığı: 474 - 478 Metin Dili: İngilizce DOI: 10.24953/turkjped.2020.03.015 İndeks Tarihi: 12-05-2021
Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay
Öz: Background. Vici syndrome is a rare autosomal recessive disease with phenotypically heterogeneous presentation. Characteristic features of the disease are oculocutaneous albinism, corpus callosum agenesis, cataract, cardiomyopathy, and immunodeficiency.Case. Here we report two Turkish patients with Vici syndrome. One of these patients had a novel mutation in EPG5 and presented with idiopathic thrombocytopenic purpura (ITP) and maculopapular rashes similar to Stevens–Johnson syndrome, which has been previously reported in only a few cases in the literature. Conclusion. Vici syndrome presents with a typical phenotype which may facilitate diagnosis for infants with multisystemic disorders. ITP and maculopapular rashes might be added to the spectrum of findings of patients with Vici syndrome.
Anahtar Kelime: Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
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| APA | Hizal m, YEKE B, YILDIZ Y, Öztürk A, bilginer gurbuz b, coskun t (2020). Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay. , 474 - 478. 10.24953/turkjped.2020.03.015 |
| Chicago | Hizal mina,YEKE BATUHAN,YILDIZ YILMAZ,Öztürk Ali,bilginer gurbuz berrak,coskun turgay Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay. (2020): 474 - 478. 10.24953/turkjped.2020.03.015 |
| MLA | Hizal mina,YEKE BATUHAN,YILDIZ YILMAZ,Öztürk Ali,bilginer gurbuz berrak,coskun turgay Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay. , 2020, ss.474 - 478. 10.24953/turkjped.2020.03.015 |
| AMA | Hizal m,YEKE B,YILDIZ Y,Öztürk A,bilginer gurbuz b,coskun t Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay. . 2020; 474 - 478. 10.24953/turkjped.2020.03.015 |
| Vancouver | Hizal m,YEKE B,YILDIZ Y,Öztürk A,bilginer gurbuz b,coskun t Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay. . 2020; 474 - 478. 10.24953/turkjped.2020.03.015 |
| IEEE | Hizal m,YEKE B,YILDIZ Y,Öztürk A,bilginer gurbuz b,coskun t "Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay." , ss.474 - 478, 2020. 10.24953/turkjped.2020.03.015 |
| ISNAD | Hizal, mina vd. "Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay". (2020), 474-478. https://doi.org/10.24953/turkjped.2020.03.015 |
| APA | Hizal m, YEKE B, YILDIZ Y, Öztürk A, bilginer gurbuz b, coskun t (2020). Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay. Turkish Journal of Pediatrics, 62(3), 474 - 478. 10.24953/turkjped.2020.03.015 |
| Chicago | Hizal mina,YEKE BATUHAN,YILDIZ YILMAZ,Öztürk Ali,bilginer gurbuz berrak,coskun turgay Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay. Turkish Journal of Pediatrics 62, no.3 (2020): 474 - 478. 10.24953/turkjped.2020.03.015 |
| MLA | Hizal mina,YEKE BATUHAN,YILDIZ YILMAZ,Öztürk Ali,bilginer gurbuz berrak,coskun turgay Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay. Turkish Journal of Pediatrics, vol.62, no.3, 2020, ss.474 - 478. 10.24953/turkjped.2020.03.015 |
| AMA | Hizal m,YEKE B,YILDIZ Y,Öztürk A,bilginer gurbuz b,coskun t Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay. Turkish Journal of Pediatrics. 2020; 62(3): 474 - 478. 10.24953/turkjped.2020.03.015 |
| Vancouver | Hizal m,YEKE B,YILDIZ Y,Öztürk A,bilginer gurbuz b,coskun t Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay. Turkish Journal of Pediatrics. 2020; 62(3): 474 - 478. 10.24953/turkjped.2020.03.015 |
| IEEE | Hizal m,YEKE B,YILDIZ Y,Öztürk A,bilginer gurbuz b,coskun t "Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay." Turkish Journal of Pediatrics, 62, ss.474 - 478, 2020. 10.24953/turkjped.2020.03.015 |
| ISNAD | Hizal, mina vd. "Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay". Turkish Journal of Pediatrics 62/3 (2020), 474-478. https://doi.org/10.24953/turkjped.2020.03.015 |
