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Auriculo‐condylar syndrome. Confronting a diagnostic challenge
Author(s) -
KokitsuNakata Nancy Mizue,
ZechiCeide Roseli Maria,
VendraminiPittoli Siulan,
Romanelli Tavares Vanessa Luiza,
PassosBueno Maria Rita,
GuionAlmeida Maria Leine
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34337
Subject(s) - condyle , temporomandibular joint , abnormality , microstomia , medicine , orthodontics , anatomy , biology , dentistry , psychiatry
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.