TY - CHAP M1 - Book, Section TI - Dionisi Vici Sabetta Gambarara Syndrome A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - It is a rare congenital multisystem disorder characterized by the presence of agenesis of the corpus callosum, severe developmental delay, immunodeficiency, cleft lip/palate, cataract, hypopigmentation, and progressive cardiomyopathy. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy. Vici Syndrome is the most typical example of a novel group of inherited neurometabolic conditions classified as congenital disorders of autophagy. Life expectancy is markedly reduced and usually death occurs before the age of 3 years due to cardiac failure or severe infection. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/11/08 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164068121 ER -