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A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?

Oculo-auriculo-vertebral (OAV) spectrum summarizes a continuum of ocular, auricular, and vertebral anomalies. Goldenhar syndrome is a variant of this spectrum and is characterized by pre-auricular skin tags, microtia, facial asymmetry, ocular abnormalities, and vertebral anomalies of different sizes...

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Autores principales: Farra, Chantal, Yunis, Khaled, Yazbeck, Nadine, Majdalani, Marianne, Charafeddine, Lama, Wakim, Rima, Awwad, Johnny
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681181/
https://www.ncbi.nlm.nih.gov/pubmed/23776370
http://dx.doi.org/10.2147/TACG.S12643
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author Farra, Chantal
Yunis, Khaled
Yazbeck, Nadine
Majdalani, Marianne
Charafeddine, Lama
Wakim, Rima
Awwad, Johnny
author_facet Farra, Chantal
Yunis, Khaled
Yazbeck, Nadine
Majdalani, Marianne
Charafeddine, Lama
Wakim, Rima
Awwad, Johnny
author_sort Farra, Chantal
collection PubMed
description Oculo-auriculo-vertebral (OAV) spectrum summarizes a continuum of ocular, auricular, and vertebral anomalies. Goldenhar syndrome is a variant of this spectrum and is characterized by pre-auricular skin tags, microtia, facial asymmetry, ocular abnormalities, and vertebral anomalies of different sizes and shapes. Most cases are thought to be sporadic. However, a few families were reported to have an autosomal recessive inheritance and other families’ presentation of the syndrome strongly supported an autosomal dominant inheritance. We report OAV in a female infant presenting with tracheomalacia, diaphragmatic hernia, encephalomeningocele, sacral neural tube defect, and cardiac defect and her brother having no more than dysmorphic features. The mode of inheritance in this family supports an autosomal recessive inheritance where the transmission was from normal first-degree consanguineous parents to one of the sons and to the daughter. This report further broadens the clinical presentation and symptoms of OAV and supports the hypothesis advancing OAV as a genetically heterogeneous disorder.
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spelling pubmed-36811812013-06-17 A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder? Farra, Chantal Yunis, Khaled Yazbeck, Nadine Majdalani, Marianne Charafeddine, Lama Wakim, Rima Awwad, Johnny Appl Clin Genet Case Report Oculo-auriculo-vertebral (OAV) spectrum summarizes a continuum of ocular, auricular, and vertebral anomalies. Goldenhar syndrome is a variant of this spectrum and is characterized by pre-auricular skin tags, microtia, facial asymmetry, ocular abnormalities, and vertebral anomalies of different sizes and shapes. Most cases are thought to be sporadic. However, a few families were reported to have an autosomal recessive inheritance and other families’ presentation of the syndrome strongly supported an autosomal dominant inheritance. We report OAV in a female infant presenting with tracheomalacia, diaphragmatic hernia, encephalomeningocele, sacral neural tube defect, and cardiac defect and her brother having no more than dysmorphic features. The mode of inheritance in this family supports an autosomal recessive inheritance where the transmission was from normal first-degree consanguineous parents to one of the sons and to the daughter. This report further broadens the clinical presentation and symptoms of OAV and supports the hypothesis advancing OAV as a genetically heterogeneous disorder. Dove Medical Press 2011-07-06 /pmc/articles/PMC3681181/ /pubmed/23776370 http://dx.doi.org/10.2147/TACG.S12643 Text en © 2011 Farra et al, publisher and licensee Dove Medical Press Ltd This is an Open Access article which permits unrestricted noncommercial use, provided the original work is properly cited.
spellingShingle Case Report
Farra, Chantal
Yunis, Khaled
Yazbeck, Nadine
Majdalani, Marianne
Charafeddine, Lama
Wakim, Rima
Awwad, Johnny
A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?
title A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?
title_full A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?
title_fullStr A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?
title_full_unstemmed A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?
title_short A Lebanese family with autosomal recessive oculo-auriculo-vertebral (OAV) spectrum and review of the literature: is OAV a genetically heterogeneous disorder?
title_sort lebanese family with autosomal recessive oculo-auriculo-vertebral (oav) spectrum and review of the literature: is oav a genetically heterogeneous disorder?
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681181/
https://www.ncbi.nlm.nih.gov/pubmed/23776370
http://dx.doi.org/10.2147/TACG.S12643
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