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.
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Ormitti, F., Ventura, E., Bacciu, A. et al. Unilateral ectopic parotid gland in CHARGE syndrome. Pediatr Radiol 43, 247–251 (2013). https://doi.org/10.1007/s00247-012-2504-1
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DOI: https://doi.org/10.1007/s00247-012-2504-1