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https://www.readbyqxmd.com/read/29346049/microphthalmia-corneal-dermoids-and-congenital-anomalies-resembling-goldenhar-syndrome-in-a-cat
#1
William Berkowski, Ingeborg Langohr, Anthony Pease, Joshua Bartoe
CASE DESCRIPTION An 18-month-old spayed female domestic shorthair cat was evaluated because of conjunctivitis and skin-fold dermatitis secondary to bilateral microphthalmia, corneal dermoids, and ankyloblepharon. CLINICAL FINDINGS Physical examination revealed bilateral microphthalmia, bilaterally symmetrical corneal dermoids, ankyloblepharon, superior and inferior entropion, prognathism, and facial asymmetry with deviation of the nasal septum. Computed tomography revealed malformed, thickened bony orbits with mineralization of the orbital ligament bilaterally...
February 1, 2018: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/29288792/distal-deletion-at-22q11-2-as-differential-diagnosis-in-craniofacial-microsomia-case-report-and-literature-review
#2
Samira Spineli-Silva, Luciana M Bispo, Vera L Gil-da-Silva-Lopes, Társis P Vieira
Craniofacial Microsomia (CFM) also known as Oculo-auriculo-vertebral Spectrum (OAVS) or Goldenhar Syndrome, presents wide phenotypic and etiological heterogeneity. It affects mainly the structures originated from the first and second pharyngeal arches. In addition, other major anomalies may also be found, including congenital heart diseases. In this study, we report a patient with distal deletion in the 22q11.2 region and a phenotype which resembles CFM. The proband is a girl, who presented bilateral preauricular tags, left auditory canal stenosis, - malar hypoplasia, cleft lip and palate, mild asymmetry of soft tissue in face, congenital heart disease, intestinal atresia, annular pancreas and hydronephrosis...
December 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29239919/accessory-auricles-systematic-review-of-definition-associated-conditions-and-recommendations-for-clinical-practice
#3
Sasan Amirhassankhani, Mark S Lloyd
Accessory auricles are rare congenital abnormalities embryologically derived from the first branchial arch. Presentation may be variable with locations grouped into anatomical zones based on the frequency of location found in the literature. This study reviewed the papers between 1981 and 2017. Findings included an association with syndromes including Goldenhar, VACTERL, Treacher-Collins, Townes-Brocks, and Wolf-Hirschhorn. Based on histological and embryological evidence, the term "accessory auricle" is best used as an umbrella term to define this difference...
December 12, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29176148/airway-management-in-a-child-with-goldenhar-syndrome
#4
Yan-Hua Sun, Bo Zhu, Bing-Yang Ji, Xiu-Hua Zhang
No abstract text is available yet for this article.
December 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/29138704/caudal-regression-and-encephalocele-rare-manifestations-of-expanded-goldenhar-complex
#5
Gabriella D'Angelo, Lucia Marseglia, Salvatore Aversa, Sara Manti, Caterina Cuppari, Mariaconcetta Cutrupi, Carmelo Salpietro, Eloisa Gitto
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...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29110636/phenotypic-and-genotypic-aspects-of-townes-brock-syndrome-case-report-of-patient-in-southern-brazil-with-a-new-sall1-hotspot-region-nonsense-mutation
#6
Paulo Breno Noronha Liberalesso, Mara L Cordeiro, Simone Carreiro Vieira Karuta, Karyn Regina Jordão Koladicz, Anderson Nitsche, Bianca Simone Zeigelboim, Salmo Raskin, Michael Rauchman
BACKGROUND: Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not readily available. TBS traits overlap with those of Goldenhar and VACTERL syndromes. CASE PRESENTATION: Here, we present the case of a 5-year-old Brazilian boy born with an anorectal abnormality, limb and external ears malformations, genitourinary anomalies, and a congenital heart defect...
November 6, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29084117/a-review-of-randomized-controlled-trials-in-cleft-and-craniofacial-surgery
#7
Jonathan M Bekisz, Elise Fryml, Roberto L Flores
This study presents a systematic review of randomized controlled trials (RCTs) in cleft and craniofacial surgery. All studies reporting on RCTs in cleft and craniofacial surgery were identified on PubMed using the search terms "cleft," "velopharyngeal insufficiency," "velopharyngeal dysfunction," "nasoalveolar molding," "gingivoperiosteoplasty," "Pierre Robin sequence," "craniofacial," "craniosynostosis," "craniofacial microsomia," "hemifacial microsomia," "hypertelorism," "Le Fort," "monobloc," "distraction osteogenesis," "Treacher Collins," and "Goldenhar...
October 27, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29042703/modification-of-dentofacial-growth-associated-with-goldenhar-syndrome
#8
Ei Ei Hsu Hlaing, Yoshihito Ishihara, Chikako Hara, Hiroshi Kamioka
The rare developmental defect, Goldenhar syndrome is characterized by complex craniofacial and dentofacial anomalies. Here we describe the successful orthodontic treatment of a 5-year-old Japanese Goldenhar syndrome patient with mild facial asymmetry, right microtia, right-side hearing loss, and tongue-thrusting by a modification of dentofacial growth using a non-surgical orthopedic treatment approach. Improvement of the vertical discrepancies on the affected side and canted occlusal plane as well as mandibular deviation were achieved with a functional orthopaedic approach...
October 2017: Acta Medica Okayama
https://www.readbyqxmd.com/read/28906337/a-three-dimensional-study-of-midfacial-changes-following-le-fort-ii-distraction-with-zygomatic-repositioning-in-syndromic-patients
#9
James M Smartt, Carey Campbell, Rami Hallac, Jake Alford, Christopher A Derderian
Le Fort II distraction with zygomatic repositioning introduced the ability to restore central midfacial height and convexity independent of changes in orbital morphology. This study analyzes midfacial and orbital morphology before and after Le Fort II distraction with zygomatic repositioning.All patients who underwent Le Fort II Distraction with zygomatic repositioning between 2013 and 2015 were included. Two- and 3-dimensional measurements were made using 3dMD Vultus software to assess canthal tilt, nasolabial angle, ratio of midfacial to lower facial height, and absolute change in nasal length...
November 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28765181/rare-presentation-of-bilobed-posterior-tongue-in-goldenhar-syndrome
#10
Thilaga Rajendran, Ganesh Ramalinggam, Valuyeetham Kamaru Ambu
A bilobed posterior tongue is a rare malformation with few reported cases in the literature. This anomaly has not been demonstrated in patients with Goldenhar syndrome. We report a case of a 5-month-old child with the classic signs of Goldenhar syndrome and laryngomalacia with an incidental finding of a bilobed posterior tongue. Careful assessment and monitoring are crucial, especially in syndromic babies.
August 1, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28623555/goldenhar-syndrome-current-perspectives
#11
REVIEW
Katarzyna Bogusiak, Aleksandra Puch, Piotr Arkuszewski
BACKGROUND: Progress in medical branches that has taken place since the first child with Goldenhare syndrome (GS) had been described in 1952 by Maurice Goldenhar, facilitated better understanding of this congenital defect. It also gave new perspectives and the opportunity to achieve satisfactory treatment results, mainly due to development of surgical techniques. DATA SOURCES: Based on the literature and own experience, we discussed the phenotype of presentation of GS, ethiopathogenesis, genetic counselling and treatment with particular emphasis on surgery correction of hemifacial microsomia...
October 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28607792/a-constellation-of-rare-findings-in-a-case-of-goldenhar-syndrome
#12
Mitesh Bedi, Rakesh Kumar Jain, Vipin Kumar Barala, Abhimanyu Singh, Hiranmayi Jha
An 18-month-old child presented with right macrostomia, bilateral preauricular skin tags, bilateral CTEV, squint in bilateral eyes, thoracic vertebral anomalies, right sided aortic arch, and associated left pulmonary agenesis. The patient did not have any associated respiratory symptoms. Ipsilateral pulmonary agenesis is considered as a rare association with Goldenhar syndrome and a case of contralateral pulmonary aplasia has been described as an even rarer association.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28566829/pitfalls-of-stenting-coarctation-of-an-angulated-right-circumflex-aortic-arch-in-goldenhar-syndrome
#13
Elaheh Malakan Rad, Hojjat Mortezaeian, Hamid Reza Pouraliakbar, Ziyad M Hijazi
We report stenting of coarctation of an angulated right circumflex aortic arch (RCAA) using four Cheatham Platinum stents in a child with Goldenhar syndrome. Difficulties in measuring the accurate length of the curved and narrowed transverse aortic arch marked discrepancy between the luminal diameters of the long narrow transverse arch and wide descending thoracic aorta, increased displacement force caused by the 90° bend between the two parts resulted in repeated stent migrations. We discuss the tips to avoid distal stent migration in the setting of an angulated RCAA...
May 2017: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/28534125/salivary-glands-abnormalities-in-oculo-auriculo-vertebral-spectrum
#14
Davide Brotto, Renzo Manara, Stefania Vio, Sara Ghiselli, Elena Cantone, Rodica Mardari, Irene Toldo, Valentina Stritoni, Alessandro Castiglione, Elisa Lovo, Patrizia Trevisi, Roberto Bovo, Alessandro Martini
BACKGROUND: Feeding and swallowing impairment are present in up to 80% of oculo-auriculo-vertebral spectrum (OAVS) patients. Salivary gland abnormalities have been reported in OAVS patients but their rate, features, and relationship with phenotype severity have yet to be defined. MATERIAL AND METHODS: Parotid and submandibular salivary gland hypo/aplasia was evaluated on head MRI of 25 OAVS patients (16 with severe phenotype, Goldenhar syndrome) and 11 controls...
May 22, 2017: Clinical Oral Investigations
https://www.readbyqxmd.com/read/28377826/goldenhar-syndrome-with-dextrocardia-and-right-pulmonary-hypoplasia-an-unusual-association
#15
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
#16
Charlie Abraham, Jordan Virbalas, Lourdes M DelRosso
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.
June 15, 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
#17
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
#18
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
#19
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
#20
Faiz Hasham, Noud van Helmond, Richard Sidlow
No abstract text is available yet for this article.
March 2017: European Journal of Anaesthesiology
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