title: Unilateral ectopic parotid gland in CHARGE syndrome.
abstract: Unilateral absence of a parotid gland at the expected location is an extremely rare condition with only a few cases reported in the medical literature and, to our knowledge, never previously described in association with CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness). Although this entity is usually associated with a complex constellation of anomalies, additional findings have been described, including cranial nerve dysfunction (VII, VIII, IX and X). We present a case that illustrates the association of CHARGE syndrome with absence of parotid gland at normal location with ectopic parotid tissue lateral to masseter muscle, incidentally detected on brain MRI and subsequently confirmed on neck MRI.
authors.affiliation: Department of Neuroradiology, Azienda Ospedaliero-Universitaria di Parma, Via Gramsci 14, 43126 Parma, Italy. formitti@ao.pr.it
authors.forename: Francesca
authors.initials: F
authors.lastname: Ormitti
authors.forename: Elisa
authors.initials: E
authors.lastname: Ventura
authors.forename: Andrea
authors.initials: A
authors.lastname: Bacciu
authors.forename: Girolamo
authors.initials: G
authors.lastname: Crisi
authors.forename: Cinzia
authors.initials: C
authors.lastname: Magnani
mesh_terms: D002828:Choristoma / Q000473:pathology*; D040181:Genetic Diseases, X-Linked; D006314:Hearing Loss, Conductive; D006801:Humans; D033162:Incidental Findings; D007231:Infant, Newborn; D007571:Jaw Diseases / Q000473:pathology*; D017880:Limb Deformities, Congenital; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D019767:Maxillofacial Abnormalities; D010306:Parotid Gland