| Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature. | |
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MedLine Citation:
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PMID: 19305190 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Oculoauriculovertebral spectrum (OAVS; OMIM 164210) is a complex condition characterized by defects of aural, oral, mandibular and vertebral development. The aetiology of this condition is likely to be heterogeneous; most cases are sporadic, however, familial cases suggesting autosomal recessive and autosomal dominant inheritance have been reported. In this study, we describe the clinical aspects of nine familial cases with evidence of autosomal dominant inheritance and compare them with reports in the literature. Interfamilial and intrafamilial clinical variabilities were observed in this study (reinforcing the necessity of careful examination of familial members). We suggest that oculoauriculovertebral spectrum with autosomal dominant inheritance is characterized mainly by bilateral auricular involvement and rarely presents extracranial anomalies. |
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Authors:
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Siulan Vendramini-Pittoli; Nancy Mizue Kokitsu-Nakata |
Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Clinical dysmorphology Volume: 18 ISSN: 1473-5717 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 2009 Apr |
Date Detail:
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Created Date: 2009-03-23 Completed Date: 2009-05-28 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: England |
Other Details:
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Languages: eng Pagination: 67-77 Citation Subset: IM |
Affiliation:
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Department of Clinical Genetics, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Sao Paulo, Brazil. siulan@centrinho.usp.br |
| Data Bank Information | |
Bank Name/Acc. No.:
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OMIM/164210 |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis,
genetics* Adolescent Child Child, Preschool Family Female Genes, Dominant* Goldenhar Syndrome / diagnosis, genetics* Humans Infant Male |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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