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Goldenhar

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https://www.readbyqxmd.com/read/28377826/goldenhar-syndrome-with-dextrocardia-and-right-pulmonary-hypoplasia-an-unusual-association
#1
Nagendra Chaudhary, Sandeep Shrestha, Hemant Kumar Halwai
Goldenhar syndrome (GS), a rare condition, occurring due to defect in development of first and second branchial arches, is characterized by a combination of various anomalies involving face, eyes, ears, vertebrae, heart, and lungs. The etiology of GS is not fully known, although various hypotheses have been proposed along with its genetic association and many other causes. Facial asymmetry and hypoplasia of the mandible are characteristic features of GS along with microtia and preauricular appendages and pits...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28356172/severe-obstructive-sleep-apnea-in-a-child-with-goldenhar-syndrome-and-nasal-obstruction
#2
Charlie Abraham, Jordan Virbalas, Lourdes M Del Rosso
A 4-year-old boy with Goldenhar syndrome and severe obstructive sleep apnea does not tolerate nasal continuous positive airway pressure. Evaluation with imaging showed nasal obstruction with an inverted tooth. This case illustrates the importance of personalized evaluation and treatment plan in a child with Goldenhar syndrome.
March 28, 2017: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/28302228/anaesthetic-management-in-a-child-with-goldenhar-syndrome
#3
Waqas Ahmed Khan, Bushra Salim, Ausaf Ahmed Khan, Shakaib Chughtai
Goldenhar syndrome is a congenital disorder involving deformities of the face. It usually affects one side of the face only and poses significant challenges in the airway management. We herein, report an 8-year boy, known case of Goldenhar syndrome, who presented to our radiology suite for a magnetic resonance imaging (MRI) brain, followed by a computed tomography (CT) scan brain. The boy had various features of Goldenhar syndrome, e.g. cleft palate, absent right eye and ear, right mandibular hypoplasia, micrognathia, and preauricular tags...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28251330/oculo-auriculo-vertebral-spectrum-going-beyond-the-first-and-second-pharyngeal-arch-involvement
#4
Brotto Davide, Manara Renzo, Ghiselli Sara, Lovo Elisa, Mardari Rodica, Toldo Irene, Castiglione Alessandro, Schifano Giovanni, Stritoni Valentina, Bovo Roberto, Trevisi Patrizia, Martini Alessandro
INTRODUCTION: Intracranial vascular, bone, and brain abnormalities might be observed in oculo-auriculo-vertebral spectrum (OAVS) patients even though these structures do not derive embryologically from the first and second pharyngeal arches. This neuroimaging study investigated their type, frequency and phenotype correlations among OAVS patients. METHODS: Thirty-five OAVS patients (mean-age 4.8 ± 6.0 years; age range 0.3-30, 14 females) underwent head CT (all patients) and brain MRI (32 patients); 19 patients had a more severe phenotype (Goldenhar syndrome)...
March 2017: Neuroradiology
https://www.readbyqxmd.com/read/28160804/a-national-safety-stand-down-to-reduce-construction-worker-falls
#5
Jessica Bunting, Christine Branche, Chris Trahan, Linda Goldenhar
INTRODUCTION: Falls are the leading cause of death and third leading cause of non-fatal injuries in construction. In an effort to combat these numbers, The National Campaign to Prevent Falls in Construction began in April 2012. As the campaign gained momentum, a week called the National Safety Stand-Down to Prevent Falls was launched to draw attention to the campaign and its goals. The purpose of this paper is to examine the reach of the Stand-Down and lessons learned from its implementation...
February 2017: Journal of Safety Research
https://www.readbyqxmd.com/read/28141737/anaesthesia-and-orphan-disease-difficult-ventilation-following-intubation-in-goldenhar-syndrome
#6
Faiz Hasham, Noud van Helmond, Richard Sidlow
No abstract text is available yet for this article.
March 2017: European Journal of Anaesthesiology
https://www.readbyqxmd.com/read/28074825/goldenhar-syndrome-cardiac-anesthesiologist-s-perspective
#7
REVIEW
Minati Choudhury, Poonam Malhotra Kapoor
Goldenhar syndrome or oculo-auriculo-vertebral dysplasia was defined by Goldenhar in 1952 and redefined by Grolin et al. later. As the name denotes, children with this syndrome present with craniofacial and vertebral anomalies which increase the risk of airway compromise. Neonates and infants with this syndrome often have premature internal organs, low birth weight, and airway disorders. For this reason, safe anesthesia in such infants requires a complete knowledge regarding metabolism and side effects of the drugs...
January 2017: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/28003975/preoperative-evaluation-and-outcome-of-corneal-transplantation-for-limbal-dermoids-a-ten-year-follow-up-study
#8
Meng Xin, Yue-Rong Gong, Shan-Hao Jiang, Chun-Hua Dai, Su-Xia Li, Wei-Yun Shi
AIM: To summarize preoperative evaluation and outcome of corneal transplantation for limbal dermoids for ten years. METHODS: Eighty-five patients diagnosed with limbal dermoids and treated with corneal transplantation were analyzed retrospectively. All patients were further divided into two groups according to absence or presence of neovascularization surrounding the dermoids in the corneal stroma. Eighty-two eyes were treated with tumor excision combined with partial lamellar sclerokeratoplasty, and the other three eyes were performed by penetrating keratoplasty...
2016: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28003705/erratum-overcoming-airway-challenges-with-the-c-mac-%C3%A2-video-laryngoscope-in-a-child-with-goldenhar-syndrome
#9
(no author information available yet)
[This corrects the article on p. 868 in vol. 60, PMID: 27942068.].
December 2016: Indian Journal of Anaesthesia
https://www.readbyqxmd.com/read/27942068/overcoming-airway-challenges-with-the-c-mac-%C3%A2-video-laryngoscope-in-a-child-with-goldenhar-syndrome
#10
Wan Fadzlina Wan Muhd Shukeri, Rhendra Hardy Mohamad Zaini, Chong Eu Soon, Mohamad Hasyizan Hassan
No abstract text is available yet for this article.
November 2016: Indian Journal of Anaesthesia
https://www.readbyqxmd.com/read/27843263/goldenhar-syndrome-a-case-report-with-review
#11
Mridula Goswami, Urvashi Bhushan, Babita Jangra
Goldenhar syndrome is a rare condition which is characterized by a multitude of anomalies involving craniofacial structures, vertebrae, internal organs and usually occurs unilaterally. The etiology of this syndrome is unclear since it varies genetically and is linked to a plethora of reasons. Herein, we report a case of Goldenhar syndrome with hemifacial microsomia and microtia along with systemic involvement which was clinically and radio-graphically assessed. Many classical signs of the syndrome were present in the patient along with few rare ones...
July 2016: International Journal of Clinical Pediatric Dentistry
https://www.readbyqxmd.com/read/27774762/hearing-characterization-in-oculoauriculovertebral-spectrum-a-prospective-study-with-10-patients
#12
Thayse Bienert Goetze, Pricila Sleifer, Rafael Fabiano Machado Rosa, Alessandra Pawelec da Silva, Carla Graziadio, Paulo Ricardo Gazzola Zen
Oculoauriculovertebral spectrum (OAVS), also known as Goldenhar syndrome, is considered a condition associated to failing of embryogenesis involving the first and second branchial arches, leading to structural abnormalities arising from it. The aim of this study is to verify the hearing features presented by patients with OAVS and provide additional information that may contribute to improvement of speech therapy. The sample consisted of 10 individuals diagnosed with OAVS and cared for by the Clinical Genetics Service...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27755235/late-recognition-of-a-case-of-oculo-auriculo-vertebral-spectrum
#13
Jeylan El Mansoury, Joyce N Mbekeani
PURPOSE: To report the late recognition of a case oculo-auriculo-vertebral spectrum (OAVS). CASE REPORT: A 14-year-old male patient with a history of spinal scoliosis and anal atresia presented with a right ocular growth that was increasing in size and causing irritation. He was discovered to have a right limbal dermoid and forniceal lipodermoid. All visual functions were normal and the rest of the anterior and posterior segments were unremarkable. External examination revealed facial asymmetry and ipsilateral hemifacial microsomia and a pre-auricular skin tag...
October 13, 2016: Optometry and Vision Science: Official Publication of the American Academy of Optometry
https://www.readbyqxmd.com/read/27687432/the-peri-operative-management-of-a-cesarean-section-in-a-patient-with-goldenhar-syndrome-gs-a-case-report
#14
Chetan Lokhande, Ihab Riad, John Tetzlaff, Sabry Ayad
No abstract text is available yet for this article.
November 2016: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/27646152/ep10-28-prenatal-sonographic-diagnosis-of-goldenhar-syndrome
#15
Y Kim
No abstract text is available yet for this article.
September 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27617809/efficacy-of-standard-costochondral-grafting-in-patients-with-bilateral-craniofacial-microsomia
#16
Arman T Serebrakian, Michael S Golinko, Michael Alperovich, Christopher M Runyan, David A Staffenberg
Craniofacial microsomia remains the second most common craniofacial deformity after cleft lip and palate. Mandibular pathology has been classically scored from type I to type III by the modified Pruzansky-Kaban classification. The authors report a case of a 5-year-old patient with Goldenhar syndrome and bilateral type III craniofacial macrosomia. The patient had absence of bilateral glenoid fossas, condyles, coronoids, and rami as well as hypoplasia of the symphysis, parasymphysis, and mandibular body. Reconstruction was performed using 2 costochondral rib autografts to reconstruct a ramus and assist in the development of a neo-glenoid fossa at the cranial base...
October 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27601832/goldenhar-syndrome-a-rare-case-report
#17
Ruchi Bhuyan, Abhishek Ranjan Pati, Sanat Kumar Bhuyan, Bikash Bishwadarshee Nayak
Goldenhar Syndrome or oculoauriculovertebral spectrum is a complex syndrome characterized by an association of maxillomandibular hypoplasia, deformity of the ear, ocular dermoid and vertebral anomalies and the most severe form of hemifacial microsomia. Here, we describe a 26-year-old male patient with unilateral hemifacial microsomia, preauricular ear tags, macrosomia on the right side of the face.
May 2016: Journal of Oral and Maxillofacial Pathology: JOMFP
https://www.readbyqxmd.com/read/27497702/proposed-caudal-appendage-classification-system-spinal-cord-tethering-associated-with-sacrococcygeal-eversion
#18
C Corbett Wilkinson, Arianne J Boylan
INTRODUCTION: The most commonly used classification system for caudal appendages (aka human tails) dates from the 1980s and classifies appendages (tails) as either true tails or pseudotails. Advances in neuroimaging since the 1980s, however, as well as an ever-increasing number of reported cases, have made this system outdated. Sacrococcygeal eversion is a condition in which the distal sacral and coccygeal vertebrae are curved in a retroverted rather than anteverted direction. It can give rise to one type of caudal appendage...
January 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27358179/mutations-in-myt1-encoding-the-myelin-transcription-factor-1-are-a-rare-cause-of-oavs
#19
Estelle Lopez, Marie Berenguer, Angèle Tingaud-Sequeira, Sandrine Marlin, Annick Toutain, Françoise Denoyelle, Arnaud Picard, Sabine Charron, Guilaine Mathieu, Harmony de Belvalet, Benoit Arveiler, Patrick J Babin, Didier Lacombe, Caroline Rooryck
BACKGROUND: Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder involving first and second branchial arches derivatives, mainly characterised by asymmetric ear anomalies, hemifacial microsomia, ocular defects and vertebral malformations. Although numerous chromosomal abnormalities have been associated with OAVS, no causative gene has been identified so far. OBJECTIVES: We aimed to identify the first causative gene for OAVS. METHODS: As sporadic cases are mostly described in Goldenhar syndrome, we have performed whole exome sequencing (WES) on selected affected individuals and their unaffected parents, looking for de novo mutations...
June 29, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27348947/goldenhar-syndrome-and-pain-related-temporomandibular-disorders-a-case-report
#20
Shehryar Nasir Khawaja, Heidi Crow, Yoly Gonzalez
Goldenhar syndrome (GS) is a development syndrome, characterized by incomplete development of the craniofacial region. The involvement is mainly unilateral; it varies from being mild to severe; and it can range from malocclusion and facial asymmetry to a more complex phenotype with complete absence of the mandibular ramus and temporomandibular joint. However, orthopedic symptoms of orofacial pain and dysfunction have not generally been considered as part of the symptom complex in GS cases. The case presented here is of a 15-year-old Caucasian patient, who was referred for evaluation because of bilateral pain in the masticatory muscles and temporomandibular joints...
April 2016: New York State Dental Journal
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