Goldenhar Syndrome - A Case Report

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

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Atypical Presentation of Goldenhar Syndrome

Bengal Journal of Otolaryngology and Head Neck Surgery ◽

10.47210/bjohns.2021.v29i1.354 ◽

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.

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Spinal dysraphism with tripedus morphology: A case report

Indian Journal of Case Reports ◽

10.32677/ijcr.v7i11.3158 ◽

2021 ◽

pp. 509-511

Author(s):

Mohd Monis ◽

Shagufta Wahab ◽

Divyashree Koppal ◽

Aiman Ibbrahim

Keyword(s):

Case Report ◽

Spina Bifida ◽

Vertebral Column ◽

Rare Case ◽

Surgical Intervention ◽

Spinal Dysraphism ◽

Tethered Cord ◽

Lower Back ◽

Rare Case Report ◽

Spinal Mri

This is a rare case report of a 5-month-old child with a complex spinal dysraphic state, and an accessory limb (tripedus morphology), accessory genitalia, and anal dimple. The child was brought to the hospital with an accessory limb arising from the back. On clinical examination, an accessory limb arising from the lower back with a partially developed foot with the presence of toes and nails was noted. Spinal MRI was advised which revealed dysraphic features including spina bifida with the low lying and posteriorly tethered cord with diastematomyelia along with a supernumerary appendage attached to the vertebral column having rudimentary bones resembling those of extremities. The presence of an accessory limb with spinal dysraphism is quite a rare anomaly. The condition can be treated by surgical intervention and involves excision of the accessory limb with adequate dural and paraspinal muscle cover.

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Combating Airway Issues with Elective Use of an I Gel in a Child with Goldenhar Syndrome

Journal of Anaesthesia and Critical Care Reports ◽

10.13107/jaccr.2021.v07i03.188 ◽

2021 ◽

Vol 7 (3) ◽

Author(s):

Shilpi Sethi ◽

Manish Sethi

Keyword(s):

Case Report ◽

Airway Management ◽

Difficult Airway ◽

Facial Asymmetry ◽

Preoperative Assessment ◽

Goldenhar Syndrome ◽

Surgical Removal ◽

Hemifacial Microsomia ◽

Oculoauriculovertebral Spectrum ◽

Limbal Dermoid

Introduction: Goldenhar syndrome is an oculoauriculovertebral spectrum attributed to the developmental anomalies of the first and second brachial arches. Its typical presentation in children with hemifacial microsomia poses a dual challenge for the anaesthesiologist on account of difficult airway often compounded with systemic abnormalities. Case report: We describe a case report wherein a 5 year female presented to the oculoplastic clinic of our hospital for surgical removal of limbal dermoid under general anaesthesia. Airway examination revealed classical facial asymmetry with underdevelopment of jaw bone coupled with protruding incisors. A predicted difficult airway, more so in a child led us to choose an anaesthesia technique with preservation of spontaneous breathing and planned use of supraglottic device in the form of an I Gel for airway management. Conclusion: The aim of this case report is to highlight the anaesthetic implications of this not so uncommon entity presenting to ophthalmology and ENT clinics. A thorough preoperative assessment, adequate preparedness and alternative plans are keys for successful airway management in such syndromic children. Keywords: Goldenhar syndrome, hemifacial microsomia, I Gel

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Craniorachischisis - a case report

National Journal of Clinical Anatomy ◽

10.1055/s-0039-3401548 ◽

2015 ◽

Vol 04 (01) ◽

pp. 040-042

Author(s):

N. Ratnakar Rao

Keyword(s):

Case Report ◽

Spina Bifida ◽

Vertebral Column ◽

Caesarian Section ◽

High Demand ◽

Spinal Nerves ◽

Medical College ◽

Pediatric Transplantation ◽

Abdominal Organs ◽

Thoracic And Abdominal

AbstractCraniorachischisis is an extreme example of anencephaly and spina bifida. It is an example for defective neural groove closure. A female dead fetus delivered by caesarian section in Malla Reddy Medical College, Hyderabad found to have features of craniorachischisis. There was complete absence of calvaria and brain; the entire vertebral column was open on the posterior side with spinal nerves seen outside. On dissection, all thoracic and abdominal organs were found to be normal. Since infant organs are in high demand for pediatric transplantation, laws must be framed to use the normal organs from these cases of neural tube defects.

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

RGO - Revista Gaúcha de Odontologia ◽

10.1590/1981-8637201600030000173212 ◽

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.

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Goldenhar syndrome presenting as limbal dermoid cyst: A case report

International Journal of Case Reports and Images ◽

10.5348/ijcri-2013-07-337-11 ◽

2013 ◽

Vol 4 (7) ◽

pp. 384 ◽

Cited By ~ 2

Author(s):

Sajid Ansari ◽

Kanchan Dhungel ◽

Kaleem Ahmad ◽

Mukesh Kumar Gupta ◽

Md. Farid Amanullah ◽

...

Keyword(s):

Case Report ◽

Dermoid Cyst ◽

Goldenhar Syndrome ◽

Limbal Dermoid

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Complications following breast cancer therapy in the adult spina bifida population: A case report

Canadian Urological Association Journal ◽

10.5489/cuaj.503 ◽

2013 ◽

Vol 7 (11-12) ◽

pp. 761

Author(s):

Nathan Y Hoy ◽

Peter Metcalfe

Keyword(s):

Breast Cancer ◽

Case Report ◽

Spina Bifida ◽

Ileal Conduit ◽

Subsequent Treatment ◽

Breast Cancer Chemotherapy ◽

Cancer Management ◽

First Case ◽

Breast Cancer Management ◽

Neurogenic Bowel

Survival to adulthood in spina bifida has greatly increased with the advent of modern therapies. With this prolonging of life expectancy, patients are exposed to the risk of adult onset malignancies and the complications of subsequent treatment. We present the case of a 66-year-old woman born with a terminal lipomyelomeningocele, presenting with new fecal incontinence and a desire to undivert her ileal conduit. The deterioration was attributed to chemotherapy for breast cancer. We highlight the urologic challenges of breast cancer management in the neurogenic bowel population, as well as the utility of an adult spina bifida clinic. To the best of our knowledge, this is the first case report of a spina bifida patient presenting with fecal and urinary complications from breast cancer chemotherapy.

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