title: Auriculo-condylar syndrome. Confronting a diagnostic challenge.
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.
authors: Department of Clinical Genetics, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRCA-USP), Bauru, SP, Brazil. nancykn@centrinho.usp.br
authors: Nancy Mizue
authors: NM
authors: Kokitsu-Nakata
authors: Roseli Maria
authors: RM
authors: Zechi-Ceide
authors: Siulan
authors: S
authors: Vendramini-Pittoli
authors: Vanessa Luiza
authors: VL
authors: Romanelli Tavares
authors: Maria Rita
authors: MR
authors: Passos-Bueno
authors: Maria Leine
authors: ML
authors: Guion-Almeida
mesh_terms: D001938:Brazil; D002648:Child; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D004423:Ear / Q000002:abnormalities; D004427:Ear Diseases / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D006801:Humans; D008334:Mandible / Q000002:abnormalities; D008865:Microstomia / Q000235:genetics; D010375:Pedigree; D013704:Temporomandibular Joint / Q000002:abnormalities