scholarly journals Goldenhar Syndrome in a pediatric patient: a case report and review of literature

2016 ◽  
Vol 64 (4) ◽  
pp. 472-476
Author(s):  
Mauro Antonio Dall AGNOL ◽  
Amy Louise BROWN ◽  
Luiz Alexandre THOMAZ ◽  
José Luiz Cintra JUNQUEIRA ◽  
Luciana Butini OLIVEIRA
Keyword(s):  
Case Report ◽  
Clinical Presentation ◽  
Wide Spectrum ◽  
Goldenhar Syndrome ◽  
Review Of Literature ◽  
Gender Ratio ◽  
Significant Family History ◽  
Vertebral Anomalies ◽  
Almost All ◽  
Facial Development

ABSTRACT Goldenhar Syndrome is a rare, generally sporadic condition, whose physical manifestations include asymmetric incomplete facial development, epibulbar dermoids, auricular malformations e auricular appendices, vertebral anomalies, central nervous system disturbances, ocular irregularities and visceral abnormalities. Its etiology is not fully understood, with its incidence ranging from 1:3500 to 1:5600 live births, and a gender ratio of 3:2 (male: female), presenting more frequently in children with congenital deafness. The purpose of this case report was to describe clinical presentation of Goldenhar syndrome in a five-year old male with no significant family history, where almost all of the classic signs of the condition were present. Considering its involvement in craniofacial structures, its rarity, and its wide spectrum of symptoms and associated systemic abnormalities, knowledge of this condition is paramount for the dental surgeon.

scholarly journals Temporal gliosarcoma: case report and review of literature

2015 ◽  
Vol 22 (1) ◽  
pp. 112-116
Author(s):  
Amit Agrawal ◽  
Vissa Shanthi ◽  
Baddukonda Appala Ramakrishna ◽  
Kuppili Venkata Murali Mohan
Keyword(s):  
Case Report ◽  
Median Survival ◽  
Glial Cells ◽  
Primary Tumor ◽  
Clinical Presentation ◽  
Spindle Cell ◽  
Review Of Literature ◽  
Future Studies ◽  
Aggressive Tumor ◽  
The Brain

Abstract First characterized by Stroebe, the gliosarcomas are highly malignant and rare primary tumor of the brain composed of neoplastic glial cells in association with spindle cell sarcomatous elements (biphasic tissue patterns). In spite of being recognized as two different pathologies studies have not shown any significant differences between gliosarcoma and glioblastoma with regard to age, sex, size, clinical presentation, and median survival. In summary, gliosarcoma is an aggressive tumor with a propensity to recur and re-grow with poor outcome. Future studies are needed to understand the true pathology of these biphasic tumors.

Quadricuspid aortic valve: a case report and review of literature

2021 ◽  
Author(s):  
Usman Ghani Piracha ◽  
Gurukripa N. Kowlgi ◽  
Walter Paulsen ◽  
Mohammad Khalid Mojadidi ◽  
Nimesh Patel
Keyword(s):  
Case Report ◽  
Aortic Valve ◽  
Aortic Valve Replacement ◽  
Functional Status ◽  
Aortic Regurgitation ◽  
Valve Replacement ◽  
Clinical Presentation ◽  
Quadricuspid Aortic Valve ◽  
Review Of Literature ◽  
Cardiac Defect

Quadricuspid aortic valve, a rare congenital cardiac defect, manifests most commonly as aortic regurgitation. Clinical presentation mainly depends on the functional status of the aortic valve, myocardium and associated cardiovascular abnormalities. Aortic valve replacement or repair is usually warranted in the 5th or 6th decade.

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.

scholarly journals AGGRESSIVE MESENTRIC FIBROMATOSIS: A RARE CASE REPORT AND REVIEW OF LITERATURE

2013 ◽  
Vol 03 (01) ◽  
pp. 79-82
Author(s):  
Rohan Shetty ◽  
Shubha Bhat ◽  
Rajesh Ballal ◽  
Pramod Makannavar ◽  
Anil Kumar K. N.
Keyword(s):  
Case Report ◽  
Male Patient ◽  
Rare Case ◽  
Clinical Presentation ◽  
Aggressive Fibromatosis ◽  
Definitive Diagnosis ◽  
Review Of Literature ◽  
Therapeutic Challenge ◽  
Rare Case Report ◽  
Small Intestinal

AbstractMesentric fibromatosis is a proliferative fibroblastic neoplasm of the small intestinal mesentery with varied clinical presentation. Giant mesentric fibromatosis is uncommon and its rarity poses a diagnostic and therapeutic challenge. This paper presents a recurrent aggressive fibromatosis in a 38 year old male patient, who had initially undergone a laparotomy outside for mass abdomen but only pus was evacuated and definitive diagnosis was not made.

scholarly journals Spigelian Hernia: A Rare Hernia With Peculiar Anatomy. (Case Report And Review Of Literature)

2019 ◽  
Vol 1 (5) ◽  
Author(s):  
Ketan Ramesh Vagholkar
Keyword(s):  
Case Report ◽  
Clinical Presentation ◽  
Treatment Options ◽  
Spigelian Hernia ◽  
Review Of Literature ◽  
Rare Type ◽  
Anatomical Basis ◽  
Diagnostic Modalities ◽  
Lateral Ventral Hernia ◽  
Rare Hernia

Background: Spigelian hernia best described as spontaneous lateral ventral hernia is an extremely rare type of hernia. The anatomical peculiarities and diagnostic challenges need to be understood in order to surgically mange this hernia. Introduction: Spigelian hernia occurs through a defect in the spigelian fascia typically lying in the spigelian zone. Case report: A case of a large incarcerated spigelian hernia is presented to highlight the diagnostic and anatomical peculiarities of this hernia. Discussion: The anatomical basis of this hernia along with clinical presentation, diagnostic modalities and treatment options is discussed. Conclusion: Clinical suspicion confirmed by imaging is necessary for diagnosis. Surgery is the mainstay of treatment.

scholarly journals Chondroblastoma of thoracic vertebra in young adult causing paraparesis

2017 ◽  
Vol 31 (3) ◽  
pp. 335-338
Author(s):  
Pramod J. Giri ◽  
Vaibhav S. Chavan
Keyword(s):  
Case Report ◽  
World Literature ◽  
Clinical Presentation ◽  
Rare Condition ◽  
Thoracic Vertebra ◽  
Complete Excision ◽  
The World ◽  
Posterior Element ◽  
Almost All

Abstract Chondroblastoma of spine is very rare condition. To best of our knowledge, fewer than 30 cases have been reported in the world literature. Almost all of them involved both anterior & posterior component of vertebra. There are only few reports with isolated posterior element involvement. Clinical presentation of paraparesis because of vertebral chondroblastoma is very rare. This case report presents 17 yr old male with chondroblastoma involving posterior thoracic vertebra presenting with quadriparesis which improved after successful treatment. Early diagnosis and complete excision with periodic follow up is necessary for treatment of this disease.

scholarly journals Oncocytoma Parotid Gland: A Case Report and Brief Review of Literature

2014 ◽  
Vol 5 (1) ◽  
pp. 25-27
Author(s):  
Sunil Kumar ◽  
Ashwini Sethi ◽  
Satwinder Pal Singh
Keyword(s):  
Salivary Gland ◽  
Case Report ◽  
Parotid Gland ◽  
Pleomorphic Adenoma ◽  
Clinical Presentation ◽  
Histopathological Examination ◽  
Salivary Gland Tumors ◽  
Review Of Literature ◽  
Head Neck

ABSTRACT Very few cases of oncocytoma parotid have been reported in literature. Because of its rarity (less than 1% of salivary gland tumors) and clinical presentation of the tumor, there is a tendency among the clinicians to misdiagnose it as pleomorphic adenoma, hemangioma or other forms of oncocytosis. Only a histopathological examination can confirm it. We report here a case of oncocytoma of parotid gland in a 70-year-old male who had the tumor for over 9 years. How to cite this article Kumar S, Sethi A, Singh SP, Sharma V. Oncocytoma Parotid Gland: A Case Report and Brief Review of Literature. Int J Head Neck Surg 2014;5(1):25-27.

Hypothenar hammer syndrome in a 22-year-old male patient: a case report and review of literature

Vascular ◽  
2011 ◽  
Vol 20 (2) ◽  
pp. 100-103 ◽  
Author(s):  
Albeir Y Mousa ◽  
Patrick A Stone ◽  
Aravinda Nanjundappa ◽  
John E Campbell ◽  
Ali F AbuRahma
Keyword(s):  
Case Report ◽  
Male Patient ◽  
Clinical Presentation ◽  
Rare Condition ◽  
Review Of Literature ◽  
Review Of The Literature ◽  
Distal Embolization ◽  
Hypothenar Hammer Syndrome ◽  
Hand Ischemia ◽  
Complete Reversal

Hypothenar hammer syndrome is a rare condition with a peculiar presentation that aids in making a clinical diagnosis. We present a 22-year-old male patient who presented with critical hand ischemia secondary to a distal ulnar aneurysm with distal embolization. The patient was treated with an aneurysmectomy with cephalic vein interposition graft, which resulted in complete reversal of his hand ischemia. This case report outlines the clinical presentation of this rare condition, along with a recent review of the literature.

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