How to Cite this Article: Kokitsu-Nakata NM, Zechi-Ceide RM, Vendramini-Pittoli S, Romanelli Tavares VL, Passos-Bueno MR, Guion-Almeida ML. 2012. Auriculo-condylar syndrome. Confronting a diagnostic challenge. Am J Med Genet Part A 158A:59–65.
Auriculo-condylar syndrome. Confronting a diagnostic challenge†
Version of Record online: 21 NOV 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 1, pages 59–65, January 2012
How to Cite
Kokitsu-Nakata, N. M., Zechi-Ceide, R. M., Vendramini-Pittoli, S., Romanelli Tavares, V. L., Passos-Bueno, M. R. and Guion-Almeida, M. L. (2012), Auriculo-condylar syndrome. Confronting a diagnostic challenge. Am. J. Med. Genet., 158A: 59–65. doi: 10.1002/ajmg.a.34337
- Issue online: 19 DEC 2011
- Version of Record online: 21 NOV 2011
- Manuscript Accepted: 28 AUG 2011
- Manuscript Received: 26 MAY 2011
- Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP/CEPID)
- Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq). Grant Number: 301789/2009-6[MLG-9]
- auriculo-condylar syndrome;
- question mark ears;
- temporo-mandibular joint abnormalities;
- mandibular condyle
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.