An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft
Siulan Vendramini‐PittoliaDepartment of Clinical Genetics bProgram of Postgraduate in Science of Rehabilitation cDepartment of Craniofacial Surgery, Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo dMedical Diagnosis Imaging, Portuguese Charity Hospital, Bauru, São Paulo, BrazilMaria Leine Guion‐AlmeidaJuliana M. SantosProgram of Postgraduate in Science of RehabilitationSilvio M. Garcia JúniorDepartment of Craniofacial Surgery, Hospital of Rehabilitation of Craniofacial Anomalies, University of São PauloMaurício YoshidaAntônio Richieri‐CostaNancy Mizue Kokitsu‐Nakata
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Аннотация
Oculoauriculovertebral spectrum (OAVS, OMIM 164210) is a complex condition characterized by defects in aural, oral, and mandibular development. Other craniofacial and extracranial anomalies can be present. With the exception of the Tessier number 7 cleft, atypical clefting has rarely been reported in association with OAVS. Here, we report on two unrelated cases with a typical phenotype of OAVS and a Tessier 30 associated cleft. One of them also had other atypical facial clefts. We discuss the association between atypical facial clefts and OAVS.
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