An unusual presentation of oculoauriculovertebral spectrum with a Tessier 30 cleft: report on two cases

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 i...

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Bibliographic Details
Published in:	Clinical dysmorphology Vol. 24; no. 4; pp. 144 - 150
Main Authors:	Vendramini-Pittoli, Siulan, Guion-Almeida, Maria L., Santos, Juliana M., Garcia Júnior, Silvio M., Yoshida, Mauricio M., Richieri-Costa, Antonio, Kokitsu-Nakata, Nancy M.
Format:	Journal Article
Language:	English
Published:	England Wolters Kluwer Health, Inc. All rights reserved 01-10-2015
Subjects:	Cleft Lip - diagnosis Cleft Lip - pathology Facial Bones Goldenhar Syndrome - diagnosis Goldenhar Syndrome - pathology Humans Infant Male Tomography Scanners, X-Ray Computed
Online Access:	Get full text
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Summary:	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.
Bibliography:	ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0962-8827 1473-5717
DOI:	10.1097/MCD.0000000000000085