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 Atypical presentation of Goldenher syndrome- a rare scenario

2014 ◽  
Vol 9 (4) ◽  
pp. 51-54
Author(s):  
C Lath ◽  
S Sen ◽  
M Mondal ◽  
D Maiti ◽  
R Singh ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Chromosomal Analysis ◽  
Ocular Involvement ◽  
Atypical Presentation ◽  
Medical Sciences ◽  
Multifactorial Inheritance ◽  
Mandibular Hypoplasia ◽  
Exact Etiology ◽  
Vertebral Anomalies

In 1952 Goldenher described a case with triad of pre auricular tags, mandibular hypoplasia and ocular (epibulbar) dermoid and described the case as Goldenger Syndrome. Exact etiology of this disease is not known. Here we present a case of Goldenher syndrome in a 5 days old newborn who presented with all the classical features except ocular involvement.   Gorlin et.al named this syndrome as oculoauriculovertebral dysplasia due to presence of additional vertebral anomalies .2 Exact etiology of this disease is not known. Most of the cases are sporadic, though autosomal recessive, autosomal dominant and multifactorial inheritance has also been suggested.2.Chromosomal analysis shows no abnormalities.3 In this report we presented a case of Goldenger Syndrome in a 5 days old newborn who presented with all the classical features except occular involvement. Journal of College of Medical Sciences-Nepal, 2013, Vol-9, No-4, 59-62 DOI: http://dx.doi.org/10.3126/jcmsn.v9i4.10239

scholarly journals Оcular manifestation in Goldenhar syndrome- case report

2020 ◽  
Vol 12 (2) ◽  
pp. 64-70
Author(s):  
Bisera Velkovska ◽  
Natasha Trpevska Shekerinov ◽  
Emilija Gjoshevska Dashtevska ◽  
Maja Ivanova
Keyword(s):  
Case Report ◽  
Multidisciplinary Approach ◽  
Treatment Protocol ◽  
Facial Asymmetry ◽  
Goldenhar Syndrome ◽  
Female Ratio ◽  
Mandibular Hypoplasia ◽  
Optimal Functioning ◽  
Clinical Presentations ◽  
Male To Female

Goldenhar's syndrome (GS) is a complex syndrome characterized by a combination of abnormalities: hemifacial macrosomia, mandibular hypoplasia, ocular dermoids, ear abnormalities, and vertebral disorders. The incidence of GS is about 1 in 5000 to 25,000 live births. The male to female ratio is 3: 2.The etiology of this rare disease is not fully understood. The treatment protocol depends on the age of the patient and systemic clinical presentations. This paper presents a case of a 46-year-old woman with Goldenhar syndrome, which manifested with facial asymmetry, epibulbar dermoid, hearing loss, and scoliosis. Because it is a congenital syndrome, these people's lives are complex from an early age. There is a need for timely recognition of this syndrome and a multidisciplinary approach in treating these patients, with a team of specialist physicians, to enable them as much optimal functioning as possible in the environment. By presenting this case report, we would like to attract the attention of GS, which would be of educational significance for all physicians, primarily ophthalmologists, as well as otolaryngologists and orthopedists.

scholarly journals Eosinophilic cellulitis (wells syndrome): a case report

2021 ◽  
Vol 7 (3) ◽  
pp. 450
Author(s):  
Ahmad Mohammad Baabdullah ◽  
Khalid Ali Al Hawsawi ◽  
Bashayr Saad Alhubayshi ◽  
Marwa Rashed Gammash
Keyword(s):  
Case Report ◽  
Histopathological Examination ◽  
Inflammatory Disorder ◽  
Atypical Presentation ◽  
Erythematous Plaque ◽  
Systemic Corticosteroids ◽  
Appropriate Treatment ◽  
Eosinophilic Cellulitis ◽  
Exact Etiology ◽  
Wells Syndrome

<p class="abstract">Eosinophilic Cellulitis is also known as Wells syndrome is uncommon dermatitis, characterized by the infiltration of eosinophils in the dermis. The exact etiology of the disease is unknown. Clinically, it is highly varied but commonly the presentation is pruritic erythematous plaque. We report a case of one and half years old healthy boy who developed itchy bullae on the dorsum of his hand with multiple erythematous papules over his extremities that started immediately after his vaccines. Histopathological examination of the lesion showed infiltrate eosinophils with typical flame figures. The case was successfully treated with corticosteroid course. This report aims to present a case of eosinophilic cellulitis (Wells syndrome) triggered by the vaccine with a literature review of the disease. In conclusion, atypical presentation of any inflammatory disorder or that not responding to appropriate treatment should trigger suspicion of eosinophilic cellulitis. Up to now, systemic corticosteroids are the most successful treatment of eosinophilic cellulitis.  </p>

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 A rare case of Goldenhar syndrome: oculo-auriculo-vertebral spectrum

2019 ◽  
Vol 6 (3) ◽  
pp. 1394
Author(s):  
Pooja Pradeep ◽  
Nandhinee Umapathi ◽  
Jagadeeshwari S. ◽  
Sundari S. ◽  
D. Shylaja
Keyword(s):  
Autosomal Recessive ◽  
Cleft Lip ◽  
Umbilical Artery ◽  
Branchial Arch ◽  
Vascular Supply ◽  
Goldenhar Syndrome ◽  
Single Umbilical Artery ◽  
Female Ratio ◽  
Male Female Ratio ◽  
Exact Etiology

Franceschetti-Goldenhar syndrome or Goldenhar syndrome, also known as facio-auricular-spectrum (FAV), first and second branchial arch syndrome, or Oculo-Auriculo-Vertebral (OAV) spectrum is a rare congenital malformation which encompasses various morphological and functional abnormalities. The incidence of Goldenhar syndrome has been reported between 1:3500 to 1:5600 children, with a male: female ratio of 3:23. The incidence is higher, about 1 in 1000 children with congenital deafness. The exact etiology is not known. However, it is possible that abnormal embryonic vascular supply, disrupted mesodermal migration or some other factors leads to defective formation of the brachial and vertebral system. Most of the cases have been sporadic. Autosomal dominant, autosomal recessive and multifactorial modes of inheritance have also been suggested. Chromosomal studies have not revealed any abnormality. Authors report a case of a neonate with hemifacial microsomia, bilateral cleft lip and cleft palate, right deformed pinna, right facial palsy, single umbilical artery and congenital heart disease.

scholarly journals Goldenhar Syndrome - A Case Report

1970 ◽  
Vol 28 (3) ◽  
pp. 193-195
Author(s):  
MAR Siddique ◽  
J Hossain ◽  
MJ Abedin ◽  
M Parvez
Keyword(s):  
Case Report ◽  
Spina Bifida ◽  
Vertebral Column ◽  
Outer Part ◽  
Goldenhar Syndrome ◽  
Normal Life ◽  
Vertebral Anomalies ◽  
Limbal Dermoid

A 7 years old boy was diagnosed a case of Goldenhar Syndrome. He presented with swelling in the upper and outer part of the left eye as limbal dermoid associated with preauricular tags, hemifacial asymmetry, microtia and small chin since birth. His vertebral anomalies also detected by skiagram of the vertebral column as spina bifida. His ocular and auricular problems were solved by surgery without any complicatons. Patient is leading a normal life. DOI: 10.3329/jbcps.v28i3.6515J Bangladesh Coll Phys Surg 2010; 28: 193-195

Atypical presentation of Ewing’s sino-nasal tumor: Case report

2019 ◽  
pp. 37-40
Author(s):  
Shweta Sharma ◽  
Bharat Sharma ◽  
Shantnu Chauhan ◽  
Mir Aziz ◽  
Nalin Chugh ◽  
...  
Keyword(s):  
Case Report ◽  
Atypical Presentation ◽  
Nasal Tumor

Atypical Presentation of Neurobrucellosis as Infection of Ventriculoperitoneal Shunt

2020 ◽  
Author(s):  
Raul-Ciprian Covrig ◽  
Jasmina Petridou ◽  
Ulrich J. Knappe
Keyword(s):  
Case Report ◽  
Abdominal Surgery ◽  
Ventriculoperitoneal Shunt ◽  
Political Context ◽  
European Countries ◽  
The Political ◽  
Atypical Presentation ◽  
The World ◽  
Surgery First ◽  
Endemic Areas

AbstractBrucellosis is a frequent zoonosis in some regions of the world and may cause various symptoms. Neurobrucellosis is a rare but serious complication of the infection. Our case report describes the course of neurobrucellosis in a patient who had received a ventriculoperitoneal shunt in his native country 13 years prior to diagnosis of brucellosis. He initially presented to us with symptoms of peritonitis, which misled us to perform abdominal surgery first. After the diagnosis of neurobrucellosis was confirmed and appropriate antibiotics were initiated, the symptoms soon disappeared. Although the ventriculoperitoneal shunt was subsequently removed, the patient did not develop a symptomatic hydrocephalus further on. This case displays the challenges in diagnosing an infection that occurred sporadically in Europe and may be missed by currently applied routine microbiological workup. Considering the political context, with increasing relocation from endemic areas to European countries, it is to be expected that the cases of brucellosis and neurobrucellosis will rise. Brucellosis should be considered and adequate investigations should be performed.

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