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

scholarly journals Combating Airway Issues with Elective Use of an I Gel in a Child with Goldenhar Syndrome

2021 ◽  
Vol 7 (3) ◽  
Author(s):  
Shilpi Sethi ◽  
Manish Sethi
Keyword(s):  
Case Report ◽  
Airway Management ◽  
Difficult Airway ◽  
Facial Asymmetry ◽  
Preoperative Assessment ◽  
Goldenhar Syndrome ◽  
Surgical Removal ◽  
Hemifacial Microsomia ◽  
Oculoauriculovertebral Spectrum ◽  
Limbal Dermoid

Introduction: Goldenhar syndrome is an oculoauriculovertebral spectrum attributed to the developmental anomalies of the first and second brachial arches. Its typical presentation in children with hemifacial microsomia poses a dual challenge for the anaesthesiologist on account of difficult airway often compounded with systemic abnormalities. Case report: We describe a case report wherein a 5 year female presented to the oculoplastic clinic of our hospital for surgical removal of limbal dermoid under general anaesthesia. Airway examination revealed classical facial asymmetry with underdevelopment of jaw bone coupled with protruding incisors. A predicted difficult airway, more so in a child led us to choose an anaesthesia technique with preservation of spontaneous breathing and planned use of supraglottic device in the form of an I Gel for airway management. Conclusion: The aim of this case report is to highlight the anaesthetic implications of this not so uncommon entity presenting to ophthalmology and ENT clinics. A thorough preoperative assessment, adequate preparedness and alternative plans are keys for successful airway management in such syndromic children. Keywords: Goldenhar syndrome, hemifacial microsomia, I Gel

scholarly journals Caudal Regression and Encephalocele: Rare Manifestations of Expanded Goldenhar Complex

2017 ◽  
Vol 2017 ◽  
pp. 1-4 ◽  
Author(s):  
Gabriella D’Angelo ◽  
Lucia Marseglia ◽  
Salvatore Aversa ◽  
Sara Manti ◽  
Caterina Cuppari ◽  
...  
Keyword(s):  
Nervous System ◽  
Clinical Features ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Goldenhar Syndrome ◽  
Caudal Regression Syndrome ◽  
Bilateral Involvement ◽  
Oculoauriculovertebral Spectrum ◽  
Caudal Regression ◽  
Vertebral Defects

Oculoauriculovertebral spectrum, or Goldenhar Syndrome, is a condition characterized by variable degrees of uni- or bilateral involvement of craniofacial structures, ocular anomalies, and vertebral defects. Its expressivity is variable; therefore, the term “expanded Goldenhar complex” has been coined. The Goldenhar Syndrome usually involves anomalies in craniofacial structures, but it is known that nervous system anomalies, including encephalocele or caudal regression, may, rarely, occur in this condition. We report two rare cases of infants affected by Goldenhar Syndrome, associated with neural tube defects, specifically caudal regression syndrome and nasal encephaloceles, to underline the extremely complex and heterogeneous clinical features of this oculoauriculovertebral spectrum. These additional particular cases could increase the number of new variable spectrums to be included in the “expanded Goldenhar complex.”

Goldenhar Syndrome: A Cause of Hearing Loss and Other Defects in Children

2003 ◽  
Vol 13 (2) ◽  
pp. 10-17
Author(s):  
R. Steven Ackley ◽  
Kerri McDill ◽  
Elizabeth Hellmuth
Keyword(s):  
Hearing Loss ◽  
Goldenhar Syndrome

Management of a Goldenhar Syndrome patient with a custom-made osteosynthesis mesh

2020 ◽  
Vol 4 (3) ◽  
Author(s):  
Carlo Tian ◽  
Ingrid Tonni ◽  
Umberto Zanetti ◽  
Luca Visconti ◽  
Francesco Daleffe ◽  
...  
Keyword(s):  
Goldenhar Syndrome ◽  
Syndrome Patient ◽  
Custom Made

scholarly journals Familial Transmission of Eating Behaviors in Preschool-aged Children

Obesity ◽  
2008 ◽  
Vol 16 (8) ◽  
pp. 1821-1825 ◽  
Author(s):  
Dörte L. Jahnke ◽  
Petra A. Warschburger
Keyword(s):  
Eating Behaviors ◽  
Familial Transmission ◽  
Preschool Aged Children

Airway management for rigid bronchoscopy via a freshly performed tracheostomy in a child with Goldenhar syndrome

2012 ◽  
Vol 24 (3) ◽  
pp. 234-237 ◽  
Author(s):  
Zulfiqar Ahmed ◽  
Achir Alalami ◽  
Michael Haupert ◽  
Sankar Rajan ◽  
Nasser Durgham ◽  
...  
Keyword(s):  
Airway Management ◽  
Rigid Bronchoscopy ◽  
Goldenhar Syndrome

Goldenhar syndrome phenotypes and 22q11 deletion

2011 ◽  
Vol 155 (2) ◽  
pp. 458-458 ◽  
Author(s):  
Sevim Balcı ◽  
Özlem Engiz
Keyword(s):  
Goldenhar Syndrome ◽  
22Q11 Deletion
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