title: 22q11.2 microduplication syndrome with congenital aural atresia:  a family report.
abstract: 22q11.2 microduplication syndrome is characterized by a large phenotypic variability including facial dysmorphism, developmental delay, and hearing loss. We describe a family in whom 5 of 11 children were affected by a unilateral or bilateral congenital aural atresia. Four of these 5 carried a 22q11.2 microduplication and had typical dysmorphic features. Computed tomography with 3-D reconstructions allowed for a detailed examination of the middle ear structures and classification of the atresia type. Audiometry revealed a moderately severe conductive hearing loss in accordance with the clinical and computed tomography findings.
  
  
  CONCLUSIONS
  Detailed examination of the ear is warranted in patients with a 22q11.2 microduplication. When outer ear abnormalities are encountered, an additional workup including audiometry and computed tomography with 3-D reconstructions is required.
authors.affiliation: Department of Otorhinolaryngology, Head and Neck Surgery, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium. An.Boudewyns@uza.be
authors.forename: An
authors.initials: A
authors.lastname: Boudewyns
authors.forename: Jenneke
authors.initials: J
authors.lastname: van den Ende
authors.forename: Tine
authors.initials: T
authors.lastname: Boiy
authors.forename: Paul
authors.initials: P
authors.lastname: Van de Heyning
authors.forename: Frank
authors.initials: F
authors.lastname: Declau
mesh_terms: D000328:Adult; D001299:Audiometry; D002648:Child; D002675:Child, Preschool; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000235:genetics*; D065817:Congenital Microtia; D004423:Ear / Q000002:abnormalities; D004432:Ear, Middle / Q000002:abnormalities / Q000473:pathology; D005260:Female; D006314:Hearing Loss, Conductive / Q000151:congenital* / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome