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Am J Med Genet A. 2012 Jan;158A(1):59-65. doi: 10.1002/ajmg.a.34337. Epub 2011 Nov 21.

Auriculo-condylar syndrome. Confronting a diagnostic challenge.

Author information

  • 1Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA-USP), Bauru, SP, Brazil. nancykn@centrinho.usp.br

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.

Copyright © 2011 Wiley Periodicals, Inc.

PMID:
22105959
[PubMed - indexed for MEDLINE]
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