title: Vici syndrome associated with sensorineural hearing loss and laryngomalacia.
abstract: The phenotypically heterogeneous, autosomal recessive Vici syndrome was first described in 1988 in a sister and brother with oculocutaneous albinism, agenesis of the corpus callosum, cataract, cardiomyopathy, cleft lip, and immunodeficiency. Only 14 cases of Vici syndrome have yet been reported, several involving morphologic and functional defects in addition to those described in the initial case. We report on a 3-month-old Turkish girl with Vici syndrome associated with laryngomalacia, further expanding the clinical spectrum. We also review clinical features in all 15 Vici syndrome patients, to distinguish general from less common signs. To the best of our knowledge, this report is the first of a Turkish patient with Vici syndrome.
authors.affiliation: Department of Pediatrics, Adana Teaching and Medical Research Center, Faculty of Medicine, Baskent University, Seyhan, Adana, Turkey.
authors.forename: Murat
authors.initials: M
authors.lastname: Ozkale
authors.forename: Ilknur
authors.initials: I
authors.lastname: Erol
authors.forename: Ayten
authors.initials: A
authors.lastname: Gümüş
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Ozkale
authors.forename: Füsun
authors.initials: F
authors.lastname: Alehan
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000150:complications* / Q000175:diagnosis*; D002386:Cataract / Q000150:complications* / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D055092:Laryngomalacia / Q000150:complications* / Q000175:diagnosis*