scholarly journals Oculoauriculovertebral spectrum with radial defects

2020 ◽  
Author(s):  
Keyword(s):  
Oculoauriculovertebral Spectrum

Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum

2010 ◽  
Vol 53 (2) ◽  
pp. 104-107 ◽  
Author(s):  
Caroline Rooryck ◽  
Yen VuPhi ◽  
Noui Souakri ◽  
Ingrid Burgelin ◽  
Robert Saura ◽  
...  
Keyword(s):  
De Novo ◽  
Balanced Translocation ◽  
Oculoauriculovertebral Spectrum

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.

Oculoauriculovertebral spectrum phenotype caused by an unbalanced t(5;8)(p15.31;p23.1) rearrangement

2004 ◽  
Vol 13 (3) ◽  
pp. 151-153 ◽  
Author(s):  
Dragana J. Josifova ◽  
Michael A. Patton ◽  
Karen Marks
Keyword(s):  
Oculoauriculovertebral Spectrum

Bilateral incyclotorsion, absent facial nerve, and anotia: Fellow travelers in Möbius sequence or oculoauriculovertebral spectrum?

2007 ◽  
Vol 11 (3) ◽  
pp. 310-312 ◽  
Author(s):  
Pramod Kumar Pandey ◽  
Daraius Shroff ◽  
Seema Kapoor ◽  
Navjot Kaur ◽  
Nandan Srivastava ◽  
...  
Keyword(s):  
Facial Nerve ◽  
Oculoauriculovertebral Spectrum

Oculoauriculovertebral spectrum: New manifestations

1995 ◽  
Vol 25 (6) ◽  
pp. 446-448 ◽  
Author(s):  
K. A. Johnson ◽  
J. Fairhurst ◽  
N. M. P. Clarke
Keyword(s):  
Oculoauriculovertebral Spectrum

Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1

2009 ◽  
Vol 149A (3) ◽  
pp. 535-538 ◽  
Author(s):  
Kara Goodin ◽  
Sandra Prucka ◽  
Audie L. Woolley ◽  
Juergen Kohlhase ◽  
Richard J.H. Smith ◽  
...  
Keyword(s):  
Goldenhar Syndrome ◽  
Familial Transmission ◽  
Oculoauriculovertebral Spectrum

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene

2009 ◽  
Vol 52 (6) ◽  
pp. 446-449 ◽  
Author(s):  
Caroline Rooryck ◽  
Marianne Stef ◽  
Ingrid Burgelin ◽  
Delphine Simon ◽  
Noui Souakri ◽  
...  
Keyword(s):  
Candidate Gene ◽  
Terminal Deletion ◽  
Oculoauriculovertebral Spectrum
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