Cargando…
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...
Autores principales: | , , , , , , |
---|---|
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 |
_version_ | 1782273218480963584 |
---|---|
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. |
format | Online Article Text |
id | pubmed-3681181 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Dove Medical Press |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT farrachantal alebanesefamilywithautosomalrecessiveoculoauriculovertebraloavspectrumandreviewoftheliteratureisoavageneticallyheterogeneousdisorder AT yuniskhaled alebanesefamilywithautosomalrecessiveoculoauriculovertebraloavspectrumandreviewoftheliteratureisoavageneticallyheterogeneousdisorder AT yazbecknadine alebanesefamilywithautosomalrecessiveoculoauriculovertebraloavspectrumandreviewoftheliteratureisoavageneticallyheterogeneousdisorder AT majdalanimarianne alebanesefamilywithautosomalrecessiveoculoauriculovertebraloavspectrumandreviewoftheliteratureisoavageneticallyheterogeneousdisorder AT charafeddinelama alebanesefamilywithautosomalrecessiveoculoauriculovertebraloavspectrumandreviewoftheliteratureisoavageneticallyheterogeneousdisorder AT wakimrima alebanesefamilywithautosomalrecessiveoculoauriculovertebraloavspectrumandreviewoftheliteratureisoavageneticallyheterogeneousdisorder AT awwadjohnny alebanesefamilywithautosomalrecessiveoculoauriculovertebraloavspectrumandreviewoftheliteratureisoavageneticallyheterogeneousdisorder AT farrachantal lebanesefamilywithautosomalrecessiveoculoauriculovertebraloavspectrumandreviewoftheliteratureisoavageneticallyheterogeneousdisorder AT yuniskhaled lebanesefamilywithautosomalrecessiveoculoauriculovertebraloavspectrumandreviewoftheliteratureisoavageneticallyheterogeneousdisorder AT yazbecknadine lebanesefamilywithautosomalrecessiveoculoauriculovertebraloavspectrumandreviewoftheliteratureisoavageneticallyheterogeneousdisorder AT majdalanimarianne lebanesefamilywithautosomalrecessiveoculoauriculovertebraloavspectrumandreviewoftheliteratureisoavageneticallyheterogeneousdisorder AT charafeddinelama lebanesefamilywithautosomalrecessiveoculoauriculovertebraloavspectrumandreviewoftheliteratureisoavageneticallyheterogeneousdisorder AT wakimrima lebanesefamilywithautosomalrecessiveoculoauriculovertebraloavspectrumandreviewoftheliteratureisoavageneticallyheterogeneousdisorder AT awwadjohnny lebanesefamilywithautosomalrecessiveoculoauriculovertebraloavspectrumandreviewoftheliteratureisoavageneticallyheterogeneousdisorder |