Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay


Hızal M., Yeke B. , YILDIZ Y. , Öztürk A., Gürbüz B. B. , COŞKUN T.

TURKISH JOURNAL OF PEDIATRICS, cilt.62, sa.3, ss.474-478, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 62 Konu: 3
  • Basım Tarihi: 2020
  • Doi Numarası: 10.24953/turkjped.2020.03.015
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.474-478

Özet

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.