Auriculo-Condylar Syndrome. Confronting a Diagnostic Challenge
| Contribuinte(s) |
UNIVERSIDADE DE SÃO PAULO |
|---|---|
| Data(s) |
05/11/2013
05/11/2013
2012
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| Resumo |
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. (C) 2011 Wiley Periodicals, Inc. Fundacao de Amparoa Pesquisa do Estado de Sao Paulo (FAPESP/CEPID) Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP) (CEPID) Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq) [301789/2009-6[MLG-9]] Conselho Nacional de Desenvolvimento Cientifico e Tecnologico (CNPq) |
| Identificador |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, MALDEN, v. 158A, n. 1, supl. 1, Part 3, pp. 59-65, JAN, 2012 1552-4825 http://www.producao.usp.br/handle/BDPI/41466 10.1002/ajmg.a.34337 |
| Idioma(s) |
eng |
| Publicador |
WILEY-BLACKWELL MALDEN |
| Relação |
AMERICAN JOURNAL OF MEDICAL GENETICS PART A |
| Direitos |
closedAccess Copyright WILEY-BLACKWELL |
| Palavras-Chave | #AURICULO-CONDYLAR SYNDROME #QUESTION MARK EARS #TEMPORO-MANDIBULAR JOINT ABNORMALITIES #MANDIBULAR CONDYLE #FACTOR-VII DEFICIENCY #AUTOSOMAL-DOMINANT INHERITANCE #OF-THE-LITERATURE #OCULOAURICULOVERTEBRAL SPECTRUM #VERTEBRAL SPECTRUM #EARS #13Q #GENETICS & HEREDITY |
| Tipo |
article original article publishedVersion |
