title: Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections.
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.
authors.affiliation: Department of Pediatrics, Matsushita Memorial Hospital, Osaka, Japan. kidsaid@mhio.meli.co.jp
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Chiyonobu
authors.forename: Takao
authors.initials: T
authors.lastname: Yoshihara
authors.forename: Yoko
authors.initials: Y
authors.lastname: Fukushima
authors.forename: Yasutoshi
authors.initials: Y
authors.lastname: Yamamoto
authors.forename: Kentaro
authors.initials: K
authors.lastname: Tsunamoto
authors.forename: Yasutaka
authors.initials: Y
authors.lastname: Nishimura
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Ishida
authors.forename: Tatsushi
authors.initials: T
authors.lastname: Toda
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Kasubuchi
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D061085:Agenesis of Corpus Callosum; D000417:Albinism; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012874:Skin Diseases, Infectious / Q000473:pathology*; D013577:Syndrome