A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance
Idiopathic facial palsy (IFP), also known as Bell’s palsy, is a common neurologic disorder, but recurrent and familial forms are rare. This case series presents a three-generation family with idiopathic facial palsy. The mode of inheritance of IFP has previously been suggested as autosomal dominant...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Otolaryngology |
| Online Access: | http://dx.doi.org/10.1155/2015/683938 |
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| author | Christian Grønhøj Larsen Mette Gyldenløve Aia Elise Jønch Birgitte Charabi Zeynep Tümer |
| author_facet | Christian Grønhøj Larsen Mette Gyldenløve Aia Elise Jønch Birgitte Charabi Zeynep Tümer |
| author_sort | Christian Grønhøj Larsen |
| collection | DOAJ |
| description | Idiopathic facial palsy (IFP), also known as Bell’s palsy, is a common neurologic disorder, but recurrent and familial forms are rare. This case series presents a three-generation family with idiopathic facial palsy. The mode of inheritance of IFP has previously been suggested as autosomal dominant with low or variable penetrance, but the present family indicates an autosomal dominant trait with high or complete penetrance. Chromosome microarray studies did not reveal a pathogenic copy number variation, which could enable identification of a candidate gene. |
| format | Article |
| id | doaj-art-ea13bf0f29d449ac871b1eedc8e3ebd2 |
| institution | Kabale University |
| issn | 2090-6765 2090-6773 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Otolaryngology |
| spelling | doaj-art-ea13bf0f29d449ac871b1eedc8e3ebd22025-02-03T06:00:44ZengWileyCase Reports in Otolaryngology2090-67652090-67732015-01-01201510.1155/2015/683938683938A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High PenetranceChristian Grønhøj Larsen0Mette Gyldenløve1Aia Elise Jønch2Birgitte Charabi3Zeynep Tümer4Department of Otorhinolaryngology, Head and Neck Surgery, Copenhagen University Hospital of Rigshospitalet, 2100 Copenhagen, DenmarkDepartment of Dermato-Allergology, Gentofte Hospital, University of Copenhagen, 2900 Hellerup, DenmarkClinical Genetic Clinic, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, 2600 Glostrup, DenmarkDepartment of Otorhinolaryngology, Head and Neck Surgery, Copenhagen University Hospital of Rigshospitalet, 2100 Copenhagen, DenmarkApplied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, 2600 Glostrup, DenmarkIdiopathic facial palsy (IFP), also known as Bell’s palsy, is a common neurologic disorder, but recurrent and familial forms are rare. This case series presents a three-generation family with idiopathic facial palsy. The mode of inheritance of IFP has previously been suggested as autosomal dominant with low or variable penetrance, but the present family indicates an autosomal dominant trait with high or complete penetrance. Chromosome microarray studies did not reveal a pathogenic copy number variation, which could enable identification of a candidate gene.http://dx.doi.org/10.1155/2015/683938 |
| spellingShingle | Christian Grønhøj Larsen Mette Gyldenløve Aia Elise Jønch Birgitte Charabi Zeynep Tümer A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance Case Reports in Otolaryngology |
| title | A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance |
| title_full | A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance |
| title_fullStr | A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance |
| title_full_unstemmed | A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance |
| title_short | A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance |
| title_sort | three generation family with idiopathic facial palsy suggesting an autosomal dominant inheritance with high penetrance |
| url | http://dx.doi.org/10.1155/2015/683938 |
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