PMID: 11932994Apr 5, 2002Paper

Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections

American Journal of Medical Genetics
Tomohiro ChiyonobuYasuo Kasubuchi

Abstract

A sister and brother with Vici syndrome are described. They both had oculocutaneous albinism, agenesis of the corpus callosum, cataracts, and cardiomyopathy. They were born to healthy unrelated parents, and had postnatal growth retardation, profound developmental delay, hypotonia, and cataracts. The sister had recurrent infections, and died of progressive heart failure at age 19 months. The brother is alive at age six months with mild cardiomyopathy, and had a single episode of acute bronchitis at age three months. Review of the clinical manifestations of the sibs we described and six children reported in the literature indicates that Vici syndrome is a distinct clinical entity. Its main clinical manifestations include growth retardation, profound developmental delay, hypotonia, albinism, agenesis of the corpus callosum, cataracts, cardiomyopathy, and recurrent infections. The occurrence of the syndrome in three pairs of sibs of both sexes born to unaffected parents supports autosomal recessive inheritance.

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Citations

Jul 11, 2013·European Journal of Human Genetics : EJHG·Thomas CullupHeinz Jungbluth
Dec 11, 2013·Cell Research·Peidu Jiang, Noboru Mizushima
Dec 31, 2015·Brain : a Journal of Neurology·Darius Ebrahimi-FakhariMustafa Sahin
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