title: A family with autosomal dominant inherited dysmorphic small auricles, lip pits, and congenital conductive hearing impairment.
abstract: METHODS
  We examined 3 generations in a family for congenital conductive hearing impairment, dysmorphic small auricles, and lip pits.
  
  
  METHODS
  Department of Otorhinolaryngology, University Hospital Nijmegen, Nijmegen, the Netherlands.
  
  
  RESULTS
  Seven members of the family had bilateral dysmorphic auricles. Three subjects had either a pit or dimple in the lip. Two subjects had congenital conductive hearing impairment.
  
  
  CONCLUSIONS
  Using gene linkage, we confirmed that these autosomal dominant inherited branchial anomalies present a new separate branchial arch syndrome.
authors.affiliation: Department of Otorhinolaryngology, University Hospital Nijmegen, The Netherlands.
authors.forename: S M
authors.initials: SM
authors.lastname: Koch
authors.forename: S
authors.initials: S
authors.lastname: Kumar
authors.forename: C W
authors.initials: CW
authors.lastname: Cremers
mesh_terms: D000293:Adolescent; D000328:Adult; D019280:Branchio-Oto-Renal Syndrome / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D004200:Diseases in Twins / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D008040:Genetic Linkage / Q000235:genetics; D006314:Hearing Loss, Conductive / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008046:Lip / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D010641:Phenotype