Goldenhar Syndrome

2018 ◽  
Author(s):  
Amy Soleta ◽  
Joelle Karlik
Keyword(s):  
Airway Management ◽  
Cervical Vertebrae ◽  
Pulmonary Complications ◽  
Goldenhar Syndrome ◽  
Thoracic Insufficiency Syndrome ◽  
Renal Malformations ◽  
Vertebral Anomalies ◽  
Difficult Ventilation ◽  
Insufficiency Syndrome ◽  
Degrees Of Severity

Goldenhar syndrome (also known as oculo-auriculo-vertebral spectrum, facio-auriculo-vertebral syndrome, and Goldenhar-Gorlin syndrome) is caused by fetal growth disturbances of the first two brachial clefts. Diagnostic criteria include eye, ear, mandibular, and/or vertebral anomalies. These patients may also have cardiac and renal malformations with varying degrees of severity. Airway management for Goldenhar patients may include difficult ventilation and intubation, which may become increasingly difficult with age. Vertebral anomalies including fused cervical vertebrae and/or cervical instability further complicate airway management. Pulmonary complications occur due to congenital malformations and scoliosis, which can lead to thoracic insufficiency syndrome. This chapter discusses genetics, presentation, and management of Goldenhar syndrome.

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

scholarly journals Difficult airway management in a child with Goldenhar Syndrome- A case report

2021 ◽  
Vol 29 (1) ◽  
pp. 59
Author(s):  
Malaka Munasinghe ◽  
Nishanthan Subramaniam ◽  
Nimalan Srisothinathan ◽  
Binoy Ranatunga ◽  
Kasun Ranaweera ◽  
...  
Keyword(s):  
Case Report ◽  
Airway Management ◽  
Difficult Airway ◽  
Goldenhar Syndrome ◽  
Difficult Airway Management

The Effect of Opening Wedge Thoracostomy on Thoracic Insufficiency Syndrome Associated with Fused Ribs and Congenital Scoliosis

2004 ◽  
Vol 86 (8) ◽  
pp. 1659-1674 ◽  
Author(s):  
Robert M. Campbell ◽  
Melvin D. Smith ◽  
Thomas C. Mayes ◽  
John A. Mangos ◽  
Donna B. Willey-Courand ◽  
...  
Keyword(s):  
Congenital Scoliosis ◽  
Opening Wedge ◽  
Thoracic Insufficiency Syndrome ◽  
Insufficiency Syndrome

Atypical Presentation of Goldenhar Syndrome

2021 ◽  
Vol 29 (1) ◽  
pp. 98-101
Author(s):  
Shubhrakanti Sen ◽  
Debmalya Maity ◽  
Arnab Koley
Keyword(s):  
Case Report ◽  
Autosomal Recessive ◽  
Chromosomal Analysis ◽  
Goldenhar Syndrome ◽  
Ocular Involvement ◽  
Atypical Presentation ◽  
Multifactorial Inheritance ◽  
Mandibular Hypoplasia ◽  
Exact Etiology ◽  
Vertebral Anomalies

Introduction In 1952 Goldenhar described a case with triad of pre auricular tags, mandibular hypoplasia and ocular (epibulbar) dermoid and described the case as Goldenhar Syndrome. Case Report A case of Goldenhar Syndrome without ocular involvement is presented. Discussion Goldenhar syndrome is also known as oculoauriculovertebral dysplasia due to presence of additional vertebral anomalies. Exact etiology of this disease is not known. Most of the cases are   sporadic, though autosomal recessive/dominant and multifactorial inheritance has also been suggested. Chromosomal analysis shows no abnormalities.

The Prevalence of Anomalies of the Upper Cervical Vertebrae in Subjects with Cleft Lip, Cleft Palate, or Both

2001 ◽  
Vol 38 (5) ◽  
pp. 498-503 ◽  
Author(s):  
Dilek A. Uğar ◽  
Gunvor Semb
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Cervical Vertebrae ◽  
Group Differences ◽  
Posterior Arch ◽  
Retrospective Comparison ◽  
Upper Cervical ◽  
Vertebral Anomalies ◽  
University Of Oslo

Objective: The purpose of this study was to examine the prevalence of cervical vertebral anomalies in individuals with cleft palate only (CPO) and bilateral (BCLP) and unilateral (UCLP) complete cleft lip and palate and make a comparison with a group without cleft. Setting: This retrospective comparison was performed at the Dental Unit, Department of Plastic Surgery, National Hospital and at the Department of Orthodontics, Faculty of Dentistry, University of Oslo, Oslo, Norway. Material and Methods: Six hundred eleven subjects (334 boys, 277 girls) with three different cleft subtypes at age 6 years or older and 264 children (121 boys, 143 girls) without clefts were included in this study. Their lateral cephalometric radiographs were studied for cervical vertebral anomalies and categorized into posterior arch deficiencies or fusions. Results: In the total cleft sample, 111 subjects (18.2%) had cervical vertebral anomalies; of these, 10 subjects had more than one anomaly. Posterior arch deficiency was found in 7.7% and fusions in 12.1%. In the sample without cleft, 9.1% had cervical vertebral anomalies, 5% posterior arch deficiency, and 4.1% fusions. When the cleft sample was divided into the three cleft subtypes, the prevalence of cervical vertebral anomalies was 25.6% in the CPO group, 16.3% in the BCLP group, and 11.1% in the UCLP group. Differences were statistically significant between the CPO and the group without cleft for both posterior arch deficiency and fusion anomalies (p < .01). Conclusion: Cervical vertebral anomalies occur more frequently in individuals with clefts as compared with those without clefts. This was statistically significant for the CPO group.

scholarly journals Repeated Anesthetic Management for a Patient With Klippel-Feil Syndrome

2014 ◽  
Vol 61 (3) ◽  
pp. 103-106 ◽  
Author(s):  
Yuri Hase ◽  
Nobuhito Kamekura ◽  
Toshiaki Fujisawa ◽  
Kazuaki Fukushima
Keyword(s):  
Airway Management ◽  
Cervical Vertebrae ◽  
Anesthetic Management ◽  
Preoperative Evaluation ◽  
Fatal Outcome ◽  
Laryngeal Edema ◽  
Airway Control ◽  
First Choice ◽  
Surgical Airway ◽  
Preoperative Examination

Abstract Klippel-Feil syndrome (KFS) is a rare disease characterized by a classic triad comprising a short neck, a low posterior hairline, and restricted motion of the neck due to fused cervical vertebrae. We report repeated anesthetic management for orthognathic surgeries for a KFS patient with micrognathia. Because KFS can be associated with a number of other anomalies, we therefore performed a careful preoperative evaluation to exclude them. The patient had an extremely small mandible, significant retrognathia, and severe limitation of cervical mobility due to cervical vertebral fusion. As difficult intubation was predicted, awake nasal endotracheal intubation with a fiberoptic bronchoscope was our first choice for gaining control of the patient's airway. Moreover, the possibility of respiratory distress due to postoperative laryngeal edema was considered because of the surgeries on the mandible. In the operating room, tracheotomy equipment was always kept ready if a perioperative surgical airway control was required. Three orthognathic surgeries and their associated anesthetics were completed without a fatal outcome, although once the patient was transferred to the intensive care unit for precautionary postoperative airway management and observation. Careful preoperative examination and preparation for difficult airway management are important for KFS patients with micrognathia.

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