Auriculo-condylar syndrome. Confronting a diagnostic challenge

Authors

  • Nancy Mizue Kokitsu-Nakata,

    Corresponding author
    1. Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA-USP), Bauru, SP, Brazil
    • Genética Clínica, HRAC-USP, Rua Silvio Marchione 3-20, CEP 17012-900, Bauru, SP, Brasil.
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  • Roseli Maria Zechi-Ceide,

    1. Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA-USP), Bauru, SP, Brazil
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  • Siulan Vendramini-Pittoli,

    1. Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA-USP), Bauru, SP, Brazil
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  • Vanessa Luiza Romanelli Tavares,

    1. Human Genome Center, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil
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  • Maria Rita Passos-Bueno,

    1. Human Genome Center, Institute of Biosciences, University of São Paulo, São Paulo, SP, Brazil
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  • Maria Leine Guion-Almeida

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

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.

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