scholarly journals A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction

2017 ◽  
Vol 26 (20) ◽  
pp. 4055-4066 ◽  
Author(s):  
Walid Fazeli ◽  
Peter Herkenrath ◽  
Barbara Stiller ◽  
Antje Neugebauer ◽  
Julia Fricke ◽  
...  
Keyword(s):  
Facial Palsy ◽  
Autosomal Dominant ◽  
Bilateral Ptosis

scholarly journals A Three-Generation Family with Idiopathic Facial Palsy Suggesting an Autosomal Dominant Inheritance with High Penetrance

2015 ◽  
Vol 2015 ◽  
pp. 1-3
Author(s):  
Christian Grønhøj Larsen ◽  
Mette Gyldenløve ◽  
Aia Elise Jønch ◽  
Birgitte Charabi ◽  
Zeynep Tümer
Keyword(s):  
Facial Palsy ◽  
Autosomal Dominant ◽  
Case Series ◽  
Neurologic Disorder ◽  
Complete Penetrance ◽  
Generation Family ◽  
Number Variation ◽  
Microarray Studies ◽  
Idiopathic Facial Palsy ◽  
Chromosome Microarray

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.

Macrostomia, Preauricular Tags, and External Ophthalmoplegia: A New Autosomal Dominant Syndrome within the Oculoauriculovertebral Spectrum?

2006 ◽  
Vol 43 (4) ◽  
pp. 429-434 ◽  
Author(s):  
Antonio Richieri-Costa ◽  
Lucilene Arilho Ribeiro
Keyword(s):  
Embryonic Development ◽  
Autosomal Dominant ◽  
Wide Spectrum ◽  
Branchial Arch ◽  
Early Embryonic Development ◽  
Bilateral Ptosis ◽  
First Report ◽  
Autosomal Dominant Condition ◽  
Oculoauriculovertebral Spectrum ◽  
Dominant Condition

Objective First and second branchial arch involvement during early embryonic development results in a wide spectrum of anomalies that encompass diverse, superimposed, and heterogeneous phenotypes within the so-called oculoauriculovertebral spectrum. Nine members of a Brazilian family presenting typical branchial arch involvement in association with external opthalmoplegia are reported. Conclusion Macrostomia or abnormal mouth contour, preauricular tags, and uni- or bilateral ptosis were present in association in several patients. To our knowledge, this is the first report on this type of autosomal dominant condition. Clinical and genetic aspects are discussed.

Hemifacial microsomia, ipsilateral facial palsy, and malformed auricle in two families: An autosomal dominant malformation

1986 ◽  
Vol 25 (S2) ◽  
pp. 129-133 ◽  
Author(s):  
Meinhard Robinow ◽  
James F. Reynolds ◽  
Joan Fitzgerald ◽  
James A. Bryant ◽  
John M. Opitz
Keyword(s):  
Facial Palsy ◽  
Autosomal Dominant ◽  
Hemifacial Microsomia

859: Autosomal Dominant Tranmission of Genitovaginal Prolapse

2005 ◽  
Vol 173 (4S) ◽  
pp. 233-234
Author(s):  
Gregory S. Jack ◽  
Raviender Bukkapatnam ◽  
Ganka Nicolav ◽  
Eric Vilain ◽  
Larissa V. Rodriguez
Keyword(s):  
Autosomal Dominant
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