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  • Title: An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases.
    Author: Vendramini-Pittoli S, Guion-Almeida ML, Santos JM, Garcia Júnior SM, Yoshida MM, Richieri-Costa A, Kokitsu-Nakata NM.
    Journal: Clin Dysmorphol; 2015 Oct; 24(4):144-50. PubMed ID: 25816358.
    Abstract:
    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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