scholarly journals Expanded Goldenhar Complex with Multiple Rare Syndromic Associations

2020 ◽  
Vol 2 ◽  
pp. 144-148
Author(s):  
Supraja Laguduva Mohan ◽  
Sunitha Vellathussery Chakkalakkoombil ◽  
Sathwik Deekonda ◽  
Devi Prasad Mohapatra
Keyword(s):  
Undescended Testis ◽  
Facial Asymmetry ◽  
Good Prognosis ◽  
Severe Form ◽  
Goldenhar Syndrome ◽  
Imaging Evaluation ◽  
Aural Atresia ◽  
Organ Systems ◽  
Genetic And Environmental Factors ◽  
The Right

Goldenhar syndrome (GS) is the most severe form of the oculoauriculovertebral spectrum, a developmental disorder primarily involving the structures derived from the first and second branchial arches, intervening first pharyngeal pouch and branchial cleft characterized by microtia, facial asymmetry, ocular abnormalities, and abnormalities of the vertebral column. A multifactorial etiology involving genetic and environmental factors has been proposed and the majority of the cases are sporadic in occurrence. The clinical phenotype of GS is highly variable and multiple associated anomalies of various organ systems have been reported in the literature. The term “Expanded Goldenhar Complex” has been used when there are associated unusual extrafacial abnormalities involving major organ systems such as the central nervous system, cardiovascular system, and respiratory system. We report a case of Expanded Goldenhar Complex with multiple anomalies, some of which are very rarely reported associations. A 5-year-old boy presented with right-sided hemifacial microsomia, microtia, preauricular and malar skin tags, bilateral radial club hands, and scoliosis since birth. Imaging revealed additional abnormalities including aural atresia, unilateral pulmonary agenesis, dextrocardia, vertebral segmentation defects, left renal ectopia, and right undescended testis. Surgical corrections were undertaken for the right radial club hand and undescended testis and he is awaiting surgery for the left club hand. Complete imaging evaluation of children with dysmorphic facies and limb abnormalities helps in identifying the various associated organ anomalies and to arrive at an accurate syndromic diagnosis. These patients have to be managed by a multidisciplinary team of clinicians on a case-to-case basis and have a good prognosis if there are no major cardiac defects or intellectual disability.

scholarly journals RARE CARDIO-RESPIRATORY FINDINGS IN GOLDENHAR SYNDROME (case report)

2017 ◽  
Vol 4 (4) ◽  
pp. 188-193
Author(s):  
M. Gonchar ◽  
O. Pomazunovska ◽  
O. Logvinova ◽  
A. Kosenko
Keyword(s):  
Left Lung ◽  
Lower Lobe ◽  
Facial Asymmetry ◽  
Branchial Arch ◽  
Speech Disorders ◽  
Severe Form ◽  
Psychomotor Development ◽  
Goldenhar Syndrome ◽  
Intermediate Form ◽  
Facial Skeleton

The Goldenhar Syndrome is the rare congenital abnormalities that include Facio-Auriculo-Vertebral Spectrum, First and Second Branchial Arch Syndrome, Oculo-Auriculo-Vertebral Spectrum, oculo-auriculo-vertebral disorder. Oculo-auriculo-vertebral disorder (OAVD) represents the mildest form of the disorder, while Goldenhar syndrome presents frequently as the most severe form. Hemifacial microstomia appears to be an intermediate form. Goldenhar Syndrome includes patients with facial asymmetry to very severe facial defects (resulting from unilateral facial skeleton hypoplasia) with abnormalities of skeleton and/or internal organs. The most significant are epibulbar dermoids, dacryocystitis, auricular abnormalities, preauricular appendages, preauricular fistulas and hypoplasia of the malar bones, mandible, maxilla and zygomatic arch. Some patients are found to have oculo-auriculo-vertebral disorder, namely low height, delayed psychomotor development, retardation (more frequently seen with cerebral developmental anomalies and microphthalmia), speech disorders (articulation disorders, rhinolalia, different voice disorders, unusual timbre), psycho-social problems, autistic behaviors. The authors describe the clinical case of Goldenhar Syndrome in boy a 3-months-year-old.  This case demonstrates a rarely described association of oculo-auriculo-vertebral disorders, malformation of respiratory system (hypoplasia of the lower lobe of the left lung with relaxation of the left cupula of the diaphragm), heart abnormality (atrium septa defect).Key words: Goldenhar Syndrome, children, diagnostic РІДКІСНІ КАРДІОРЕСПІРАТОРНІ ЗНАХІДКИ ПРИ СИНДРОМІ ГОЛДЕНХАРА.Гончар М.О., Помазуновська О.П., Логвінова О.Л., Тригуб Ю.В., Косенко А.М.Синдром Гольденхара є рідкісною вродженою аномалією, яка включає перший і другий синдром Бінья, окуло-аурикуло-вертебральний спектр, окуло-аурикуло-хребетний синдром. Окуло-аурикула-хребетний синдром є самою м'якою формою розладу, тоді як синдром Гольденхара часто протікає важко. Хеміфаціальная мікростомія - проміжна форма. Синдром Гольденхара включає як пацієнтів з лицьової асиметрією так і з дуже важкими дефектами лицьового черепа (в результаті односторонньої гіпоплазії лицьового скелета) з відхиленнями в будові скелета і / або внутрішніх органів. Найбільш значущими є епібульбарной дермоіди, дакріоцистит, аурікулярні аномалії, предорікулярні придатки, предорікулярні фістули, гіпоплазію нижньої щелепи, верхньої щелепи і щелепної дуги. У деяких пацієнтів виявляється окуло-аурикуло-хребетний синдром, а саме низькорослість, уповільнене психомоторне розвиток, аномалії розвитку мозку і мікрофтальмії, розлад мови, порушення артикуляції, алалия, різні порушення мови, незвичайний тембр голосу і психосоціальні порушення, аутизм. Автори описують клінічний випадок синдрому Гольденхара у хлопчика 3-місячного віку. Цей випадок демонструє асоціацію окуло-аурикула-хребетних розладів які рідко зустрічаються в практиці, мальформацию дихальної системи (гіпоплазію нижньої частки лівої легені з релаксацією лівого купола діафрагми), аномалію серця (дефект міжпредсердної перегородки).Ключові слова: синдром Гольденхара, діти, діагностика РЕДКИЕ КАРДИОРЕСПИРАТОРНЫЕ НАХОДКИ ПРИ СИНДРОМЕ ГОЛДЕНХАРА.Гончарь М.А., Помазуновская Е.П., Логвинова О.Л., Тригуб Ю.В., Косенко А.М.Синдром Голденхара представляет собой редкие врожденные аномалии, которые включают первый и второй синдром Биньяла, окуло-аурикуло-вертебральный спектр, окуло-аурикуло-позвоночный синдром. Окуло-аурикуло-позвоночный синдром (OAVD) представляет собой самую мягкую форму расстройства, тогда как синдром Голденхара часто протекает тяжело. Хемифациальная микростомия представляется промежуточной формой. Синдром Голденхара включает как пациентов с лицевой асимметрией так и с очень тяжелыми дефектами лицевого черепа (в результате односторонней гипоплазии лицевого скелета) с отклонениями в строении скелета и / или внутренних органов. Наиболее значимыми являются эпибульбарные дермоиды, дакриоцистит, аурикулярные аномалии, предорикулярные придатки, предорикулярные фистулы, гипоплазия скуловых костей, нижней челюсти, верхней челюсти и скуловой дуги. У некоторых пациентов выявляется окуло-аурикуло-позвоночный синдром, а именно низкорослость, замедленное психомоторное развитие, аномалии развития мозга и микрофтальмии, расстройство речи, нарушения артикуляции, ринолалия, различные нарушения речи, необычный тембр голоса и психосоциальные нарушения, аутизм. Авторы описывают клинический случай синдрома Голденхара у мальчика 3-месячного возраста. Этот случай демонстрирует редко встречаемую ассоциацию окуло-аурикуло-позвоночных расстройств, мальформацию дыхательной системы (гипоплазию нижней доли левого легкого с релаксацией левого купола диафрагмы), аномалию сердца (дефект перегородки атриума).Ключевые слова: синдром Голденхара, дети, диагностика

scholarly journals Levator palpabrae superioris myositis as an unusual cause of unilateral ptosis—case report

2021 ◽  
Vol 52 (1) ◽  
Author(s):  
Ahmed M. Abdrabou
Keyword(s):  
Previous History ◽  
Good Prognosis ◽  
Oculomotor Nerve Palsy ◽  
Ophthalmological Examination ◽  
Bilateral Ptosis ◽  
Mri Findings ◽  
Upper Eyelid ◽  
Unilateral Disease ◽  
The Right ◽  
Mri Study

Abstract Background Ptosis can be a manifestation of a more serious situation. Hence, the analysis of the complaint and the search for etiology are crucial in such cases. Ptosis has many causes; some of them lead to unilateral ptosis while others cause bilateral ptosis. For instance, myasthenia gravis is a cause of bilateral ptosis while oculomotor nerve palsy induces unilateral disease. Proper evaluation of the patient and identification of the cause are important to achieve accurate management and good prognosis. Case presentation A 47-year-old male patient attended the ER complaining of dropping the right eye lid of 2 days’ duration. There was no associated pain or diplopia. On examination, the extraocular muscles’ (EOM) motility was intact, normal pupil and corneal reflexes, and there was swelling of the upper eyelid. Ophthalmological examination revealed normal anterior and posterior chambers as well as the vitreous and retina. The patient had a previous history of traumatic intracranial hemorrhage that was resolved without surgical intervention. He also had diabetes mellitus and hypertension. The patient was transferred to the MRI unit to perform MRI study of the brain and orbit with MRA and IV contrast administration. MRI findings confirmed the diagnosis of LPS myositis, and the patient received medical treatment and improved. Conclusion Proper radiological diagnosis leads to accurate management and achieves rapid recovery and optimal patient care.

Role of laparoscopic in diagnosis and treatment of undescended testis in children at Viet Duc Hospital

2018 ◽  
Vol 8 (4) ◽  
Author(s):  
Viet Hoa Nguyen
Keyword(s):  
Laparoscopic Surgery ◽  
Undescended Testis ◽  
Correct Diagnosis ◽  
Diagnosis And Treatment ◽  
Highly Sensitive ◽  
The Mean ◽  
The Right ◽  
Time Of Operation

Abstract Introduction: Evaluating the role of laparoscopic for diagnosis and treatment of undescended testis in children. Material and Methods: Restrospective study, between 6/ 2014 and 6/2017. All the patients are aged from 1 to 16 years with undescended testis underwent laparoscopic surgery for diagnosis and treatment in Deparment of pediatric surgery – Viet Duc hospital enrolled. Results: Of 95 patiens in total had 106 undescended testis diagnosed and treated by laparoscopy. The mean age of patients was 7,5 ± 3,8 years. 44,2% undescended were on the left side, 44,2% were on the right and 11,6% were undescended bilateral. The correct diagnosis by ultrasound accounted in 79,4%. The locations of testis diagnosed by laparoscopic are : intra abdomen in 45,3%, deep inguinal orifice in 16,9%, extra inguinal orifice in 26,4%, no testicle found in 11,4%. The mean time of operation were 67,33± 28,01 pht. Scrotal positions were achieved 74,5%, remove atrophic testis accounted in 7,6%. Stephen- Flowler technique including step I were in 4,7%, step II in 1,9%. The outcome evaluated by testicular positions following 3 months after operation are : good in 79,2%, moderate 13,2%, poor in 7,6%; By classification of Aubert are : good in 81,1%, moderate in 11,3% and poor in 7,6 %. Conclusion: Laparoscopic surgery is not only a highly sensitive diagnostic method to find accurately the location and size of the testes, but also the most effective method to treat impalpable undescended testes.

Complicated EBV infection in a healthy child

2021 ◽  
Vol 14 (3) ◽  
pp. e241099
Author(s):  
Hugo Teles ◽  
Teresa Brito ◽  
Joana Cachão ◽  
Susana Parente
Keyword(s):  
Healthy Child ◽  
Acalculous Cholecystitis ◽  
Abdominal Ultrasound ◽  
Good Prognosis ◽  
Left Ventricular ◽  
Acute Acalculous Cholecystitis ◽  
Cervical Lymph Nodes ◽  
Barr Virus ◽  
Ebv Infection ◽  
The Right

The Epstein-Barr virus (EBV) is highly prevalent throughout the population. Although in most cases, the infection has a good prognosis, it can cause severe complications. We report a case of a healthy child with a primary EBV infection that evolved with two rare complications. She first presented in the emergency room with fever and sore throat, and was diagnosed with tonsillitis and medicated with antibiotic. She returned 7 days later for fatigue, vomiting and abdominal pain. The examination revealed tonsillitis, swollen cervical lymph nodes and pain in the right hypochondrium. An abdominal ultrasound was performed, compatible with acute acalculous cholecystitis. She was admitted in the paediatric nursery and medicated with intravenous antibiotics. The EBV serology revealed primary infection. Two days later, she developed cardiogenic shock and had to be transferred to an intensive care unit under mechanical ventilation and inotropics. She was discharged 12 days later, keeping a moderate left ventricular dysfunction.

scholarly journals Refractory pemphigus vulgaris associated with herpes infection: case report and review

2011 ◽  
Vol 53 (2) ◽  
pp. 113-117 ◽  
Author(s):  
Maria Luiza Figueiredo Braga Brandão ◽  
Nurimar C. Fernandes ◽  
Danielle Pereira De Oliveira Batista ◽  
Norma Santos
Keyword(s):  
Sequence Analysis ◽  
Pemphigus Vulgaris ◽  
Chain Reaction ◽  
Upper Eyelid ◽  
Triggering Factor ◽  
Polymerase Chain ◽  
Genetic And Environmental Factors ◽  
The Right ◽  
Hsv 1

BACKGROUND: Pemphigus vulgaris (PV) is an autoimmune disease characterized by blistering of the skin and mucosa, which develops due to the interaction between predisposing genetic and environmental factors. Infections caused by members of the Herpesviridae family have been suggested as a possible triggering factor for PV. OBJECTIVE AND METHODS: In this report, we investigate the presence of herpesviruses in refractory lesions on the right upper eyelid. The lesion has persisted despite the treatment with corticosteroids. Polymerase chain reaction (PCR) and DNA sequence analysis have been used to detect the DNA of HSV 1/2, VZV, EBV, CMV, HHV-6, HHV-7, and HHV-8. RESULTS: The sample collected from the right upper eyelid has tested positive for HSV 1/2. Sequence analysis has confirmed the PCR results and allowed the identification of the HSV strain as belonging to type 1. After treatment with acyclovir, the lesion of the right upper eyelid has cleared and not relapsed. CONCLUSION: When patients present PV lesions which are refractory to corticosteroid therapy, herpetic infection should be considered.

scholarly journals Correction of severe facial asymmetry: A case with fractured condyle

2019 ◽  
Vol 9 ◽  
pp. 59-64
Author(s):  
Ramesh Agrawal ◽  
Dolly P. Patel ◽  
Bhagyashree B. Desai
Keyword(s):  
Facial Asymmetry ◽  
Post Treatment ◽  
Radiographic Examination ◽  
Rigid Fixation ◽  
Class Iii ◽  
Class Iii Malocclusion ◽  
History Of ◽  
Condylar Head ◽  
The Stability ◽  
The Right

The current paper depicts the challenges faced during the treatment of a complicated case of mandibular condylar head fracture, facial asymmetry, and centric relation-centric occlusion (CR-CO) discrepancy along with Class III malocclusion. A 20-year-old female reported with the chief complaint of difficulty in chewing and concern with her appearance due to deviated jaw and had a history of trauma over chin region. The clinical and radiographic examination revealed significant facial asymmetry with long face, right-sided deviation of the mandible, fractured condyle, CR-CO discrepancy, cross- bite with Class III malocclusion, and a missing mandibular single incisor along with non-vital 21 and 22. She was treated with 0.022 MBT appliance along with guiding plane for CR-CO correction followed by asymmetric bilateral sagittal split osteotomy and differential set back on the right and left sides and finally rigid fixation. A good facial profile and functional occlusion were achieved and non-vital 21 and 22 were esthetically rehabilitated with PFM crowns. The stability of surgical as well as orthodontic corrections was excellent and appreciable in the records obtained 2-year post-treatment. When faced with mutilated malocclusion, with multiple problems, sequential correction of functional malocclusion with dental decompensation followed by skeletal correction with surgical approach has yielded a appreciable facial correction with good stability showing 2-year post-treatment follow-up.

scholarly journals COVID - 19 AS A “SIGNIFICANT CIRCUMSTANCE” FOR RISK ASSESSMENT IN LIFE INSURANCE (IN AND AFTER THE PANDEMIC)

2021 ◽  
Author(s):  
Željka Primorac
Keyword(s):  
Risk Assessment ◽  
Health Status ◽  
Life Insurance ◽  
Personal Data ◽  
Severe Form ◽  
Insurance Contract ◽  
Hospital Treatment ◽  
Legal Norms ◽  
Legal Standards ◽  
The Right

The data on the health status of a policyholder represent a significant circumstance for risk assessment and concluding a life insurance contract, and are also legally relevant circumstances for exercising the rights from that contract. The author starts from a theoretical analysis of the perception of data on the health status of policyholders as personal data, comparing the right to confidentiality of such data with the duty to report them (before concluding a life insurance contract) in terms of reporting all circumstances relevant to the insurance risk assessment. In order to properly fulfil the obligation of pre-contractual nature, the paper analyses the legal norms governing this issue and also provides a comparative overview of the Croatian and German insurance legislation with special emphasis on the scope of health data that the insurer is authorised to require, the clarity of legal standards and legal insurance norms contained in the insurance questionnaires and the life insurance offer. Presenting the importance of COVID-19 infection and possible chronic consequences for human health, the author indicates the extent to which COVID-19 infection (mild or severe form of disease, possible need for hospital treatment) will have an impact on the design of new insurance questionnaires and the relevance of genetic testing results in the context of concluding future life insurance contracts.

scholarly journals Acute Testicular Torsion in Children: A Tertiary Hospital Experience in a Developing Country

2021 ◽  
Vol 2 (4) ◽  
pp. 01-03
Author(s):  
Chukwubuike Kevin Emeka
Keyword(s):  
Pediatric Surgery ◽  
Testicular Torsion ◽  
Undescended Testis ◽  
Tertiary Hospital ◽  
Prior History ◽  
Testicular Pain ◽  
History Of ◽  
The Mean ◽  
Urological Emergency ◽  
The Right

Background: Testicular torsion is a urological emergency in which there is a race against time to salvage the testis. The aim of this study was to evaluate our experience in the management of children who presented with acute testicular torsion. Materials and Methods: This was a retrospective study of children aged 15 years and below who had surgery for acute testicular torsion between January 2013 and December 2017 at the pediatric surgery unit of a teaching hospital in Enugu, Nigeria. Results: Sixty-four children were managed during the study period. The ages of the patients ranged from 2 months to 14 years with a median of 6 years. The right testis was mostly affected and the mean duration from the onset of symptom to presentation was 4 hours. All the patients presented with testicular pain and half of the patients had a prior history of intermittent testicular pain. Four (6.3%) patients had a history of trauma precipitating the testicular torsion and 3 (4.7%) patients had undescended testis. Detorsion and Orchidopexy was the most performed surgical procedure and wound infection was the most common post-operative complication. There was no mortality. Conclusion: Testicular torsion is not uncommon in children and may be associated with testicular loss. The right testis is mostly involved in children. Prior history of intermittent testicular pain, trauma and undescended testis are important considerations. Prompt detorsion and orchidopexy remains the cornerstone of treatment.

scholarly journals Giant unicystic ameloblastoma of maxilla-successful endoscopic management

2021 ◽  
Vol 7 (10) ◽  
pp. 1696
Author(s):  
Sanjeev Mohanty ◽  
Manu Vergis ◽  
Devipriya V. ◽  
Haripriya G. ◽  
Lakshmi Shree Nallapaneni ◽  
...  
Keyword(s):  
Complete Resolution ◽  
Organ Preservation ◽  
Mouth Opening ◽  
Facial Asymmetry ◽  
Standard Of Care ◽  
Endoscopic Management ◽  
Rare Tumour ◽  
Unicystic Ameloblastoma ◽  
The Right

<p>This 32-year-old male patient presented with complaints of restricted mouth opening and gross facial asymmetry owing to the massive jaw swelling on the right side. After a thorough examination, a diagnosis of unicystic ameloblastoma of maxilla. Although, the standard of care surgical approach was through Weber-Fergusson incision, a concerted attempt to excise the tumour with the minimally invasive endoscopic route was made successfully. The patient was symptom free now with complete resolution of swelling on a regular follow up post operatively. This case report highlighted the modern day protocol of organ preservation concepts in surgical management of a rare tumour in otolaryngology practice</p>

scholarly journals Multidisciplinary approach in the treatment of ossifying fibroma: Case report

2020 ◽  
Vol 9 (10) ◽  
pp. e3779108833
Author(s):  
Luara Teixeira Colombo ◽  
Laís Kawamata de Jesus ◽  
Ana Flávia Piquera Santos ◽  
Henrique Hadad ◽  
Everton Pontes Martins ◽  
...  
Keyword(s):  
Bone Lesion ◽  
Facial Asymmetry ◽  
Postoperative Recovery ◽  
Ossifying Fibroma ◽  
Clinical Report ◽  
Total Excision ◽  
Stomatognathic System ◽  
Slow Evolution ◽  
The Right ◽  
And Function

Ossifying fibroma is a type of fibro-bone lesion characterized by asymptomatic volumetric increase, of slow evolution, which can reach large dimensions resulting in facial asymmetry, causing tooth displacement and functional impairment of the stomatognathic system structures. The purpose of this article was to the clinical report a case of a female patient, seen at the University Clinic, with a complaint of a volumetric increase in the right mandibular region with an evolution of approximately 1 (one) year. Before the total excision of the lesion, an incisional biopsy was performed with the diagnosis of ossifying fibroma. Due to the proportions of the lesion, the patient presented dysphagia, which resulted in an anemic condition, requiring normalization of the condition prior to the total excision of the lesion. After 6 months of follow-up, the patient showed significant improvement in the shape and function of the operated region, in addition to the nutritional deficiency. The assessment of the patient's nutritional status is extremely important, should not be neglected, since malnutrition is directly linked to the evolution of the disease, and interferes with postoperative recovery.

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