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Keywords:

  • auriculo-condylar syndrome;
  • question mark ears;
  • temporo-mandibular joint abnormalities;
  • mandibular condyle

Abstract

Auriculo-condylar syndrome (ACS) is characterized by typical ears malformation (so-called “question mark” ears), prominent cheeks, microstomia, and abnormality of the temporomandibular joint and condyle of the mandible. In this report we describe a new simplex case and a previously unreported family with affected individuals in three generations documenting clinical variability. Linkage study for markers located in candidate region for ACS1 (1p21.1–q23.3) was excluded in our familial case, reinforcing the hypothesis of genetic heterogeneity for this condition. A review of the literature focusing diagnostic criteria and features of ACS was performed. © 2011 Wiley Periodicals, Inc.