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https://www.readbyqxmd.com/read/27843263/goldenhar-syndrome-a-case-report-with-review
#1
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
#2
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...
October 24, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27755235/late-recognition-of-a-case-of-oculo-auriculo-vertebral-spectrum
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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...
August 6, 2016: 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
#9
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
#10
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
https://www.readbyqxmd.com/read/27329096/goldenhar-syndrome-a-rare-diagnosis-with-possible-prenatal-findings
#11
Bárbara Ribeiro, Joana Igreja, Miguel Gonçalves-Rocha, Alexandra Cadilhe
Goldenhar syndrome is a rare congenital disease associated with hemifacial hypoplasia as well as ear and ocular defects. Sometimes it is also associated with vertebral and other bone defects, cardiac malformations and central nervous system anomalies. Its aetiology is not yet clarified in the literature. We present a case of multiple malformations detected in the morphology ultrasound (at 22 weeks of gestation), namely absent nasal bones, micrognathia and absent left radius, among other defects. Genetic counselling, fetal brain MRI and cardiac sonography, which showed ventricular septal defect, were performed...
2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27281829/sutureless-lamellar-corneoscleral-patch-graft-with-fibrin-sealant-for-limbal-dermoid-removal
#12
Andrew Xingyu Zhou, Balamurali Krishna Ambati
A 2-year-old boy with Goldenhar syndrome had a limbal dermoid removed and covered with a lamellar corneoscleral patch graft that was attached with fibrin glue and no sutures. The graft healed and attached well. A sutureless technique is beneficial due to decreased scarring and chance of infection.
2016: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27276779/airway-management-with-direct-laryngoscopy-in-a-child-with-goldenhar-syndrome
#13
Bibiana Vitković, Morena Milić
Goldenhar syndrome, also known as oculoauriculovertebral dysplasia, is a rare congenital condition characterized by facial, cranial, vertebral, ocular, auricular and cardiac abnormalities. This syndrome is associated with hemifacial microsomia due to inadequate growth of the mandible and vertebral anomaly of the cervical part of the spine. For anesthesiologists, airway management is of great interest because of facial and oral abnormalities such as mandibular hypoplasia and limitation of neck movement. Considering different conditions of Goldenhar syndrome, every patient should be preoperatively evaluated in order to make the plan for the anticipated difficult airway management...
March 2016: Acta Clinica Croatica
https://www.readbyqxmd.com/read/27200154/goldenhar-syndrome-with-contralateral-pulmonary-aplasia-a-rare-association
#14
Tejeshwar Singh Jugpal, Jyoti Kumar, Swati Gupta, Anju Garg
We present a case of a 13-year-old boy with clinical features of Goldenhar syndrome (hemifacial microsomia with malformed ears) and associated contralateral pulmonary aplasia. The patient did not have any associated respiratory symptoms. Pulmonary aplasia is an uncommon association of Goldenhar Syndrome. A case of contralateral pulmonary aplasia has been rarely reported in the literature to the best of our knowledge.
January 2016: Journal of Radiology Case Reports
https://www.readbyqxmd.com/read/27094180/defining-and-measuring-safety-climate-a-review-of-the-construction-industry-literature
#15
REVIEW
Natalie V Schwatka, Steven Hecker, Linda M Goldenhar
Safety climate measurements can be used to proactively assess an organization's effectiveness in identifying and remediating work-related hazards, thereby reducing or preventing work-related ill health and injury. This review article focuses on construction-specific articles that developed and/or measured safety climate, assessed safety climate's relationship with other safety and health performance indicators, and/or used safety climate measures to evaluate interventions targeting one or more indicators of safety climate...
June 2016: Annals of Occupational Hygiene
https://www.readbyqxmd.com/read/27093828/-the-etiology-research-progress-of-oculo-auriculo-vertebral-spectrum
#16
REVIEW
Pu Wang, Yue Fan, Xiaowei Chen
Oculo-auriculo-vertebral spectrum (OAVS), also known as Goldenhar syndrome, hemifacial microsomia, oculo-auriculo-vertebral dysplasia and facio-auriculo-vertebral spectrum, is a developmental disorder associated with the first and second branchial arches. Most cases are sporadic, while some familial instances observed suggested that the etiology of OAVS heterogeneous. In this review, we summarize the OAVS epidemiology, classification and mainlyheterogeneous etiology.
December 2015: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
https://www.readbyqxmd.com/read/26949683/a-wide-spectrum-of-axial-mesodermal-dysplasia-complex-with-rhombencephalic-anomaly-a-case-report
#17
Kang-Won Kim, Jeoung-Hwan Seo, Myoung-Hwan Ko, Yu-Hui Won, Sung-Hee Park
Axial mesodermal dysplasia complex (AMDC) arises in variable combinations of craniocaudal anomalies such as musculoskeletal deformities, neuroschisis, or rhombencephalic developmental disorders. To the best of our knowledge, the co-existence of AMDC with associated musculoskeletal anomalies, medullary neuroschisis with mirror movements, and cranial nerve anomalies has not yet been reported. Here, we report the case of a 4-year-old boy whose clinical features were suggestive of Goldenhar syndrome and Poland syndrome with Sprengel deformity...
February 2016: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/26892494/a-microanatomic-abnormality-of-the-lacrimal-gland-associated-with-goldenhar-syndrome
#18
REVIEW
Frederick A Jakobiec, Anna M Stagner, William R Katowitz, Ralph C Eagle
A 12-month-old male infant, noted from birth to have a diffuse right temporal epibulbar thickening that encroached on the limbus inferotemporally, was found to manifest stigmata of Goldenhar syndrome, including a limbal dermoid with vellus hairs, esotropia, astigmatism, fullness and ectropion of the lower eyelid, preauricular skin tag, agenesis of the right kidney, and a supernumerary rib. In the excised epibulbar specimen, in addition to a solid dermoid, lobules of lacrimal gland tissue were interpreted as a portion of the palpebral or orbital lobes...
September 2016: Survey of Ophthalmology
https://www.readbyqxmd.com/read/26841821/experiences-from-auditory-brainstem-implantation-abis-in-four-paediatric-patients
#19
Karin Lundin, Fredrik Stillesjö, Gunnar Nyberg, Helge Rask-Andersen
INTRODUCTION: Indications for auditory brainstem implants (ABIs) have been widened from patients with neurofibromatosis type 2 (NF2) to paediatric patients with congenital cochlear malformations, cochlear nerve hypoplasia/aplasia, or cochlear ossification after meningitis. We present four ABI surgeries performed in children at Uppsala University Hospital in Sweden since 2009. METHODS: Three children were implanted with implants from Cochlear Ltd. (Lane Cove, Australia) and one child with an implant from MedEl GMBH (Innsbruck, Austria)...
2016: Cochlear Implants International
https://www.readbyqxmd.com/read/26819096/neurotrophic-keratopathy-secondary-to-trigeminal-nerve-aplasia-in-patient-with-goldenhar-syndrome
#20
G Olavarri González, B García-Valcarcel González, A Baeza Autillo, P Balado Vazquez
CASE REPORT: A 4-year-old male diagnosed with Goldenhar syndrome, with an unremarkable ophthalmic history, develops a neurotrophic ulcer secondary to trigeminal nerve aplasia. It was treated with multilaminar amniotic membrane transplantation. DISCUSSION: Trigeminal nerve aplasia is not usually reported in Goldenhar syndrome. Therefore, it seems necessary to perform routine eye examinations, from an early age, to prevent serious complications associated with corneal anaesthesia...
April 2016: Archivos de la Sociedad Española de Oftalmología
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