A patient with multiple skin tags, preauricular pit, limbal dermoid: Atypic Goldenhar syndrome

Goldenhar Syndrome (known as Oculoauriculovertebral Syndrome (OAVS) or facioauriculovertebral dysplasia) is a rare congenital defect classically involving eye anomalies with or without anomalous development of the ear, nose, lips, soft palate, mandible and vertebra. It is a morphogenetic anomaly associated with the 1st and 2nd branchial arches. We report a case of 9 months old male child presented with ocular abnormalities. On evaluation, he had the classical signs of this syndrome like limbal dermoids, eyelid coloboma, preauricular skin tags and hemi facial microsomia. This patient was first seen in January 2010 and has been followed and treated for the same. The patient underwent a surgery for right eye limbal dermoid at the age of 4 years. The initial presentation with course of the disease and Post-Surgical outcome is described here. The Authors performed dermoid excision with autologous conjunctiva along with limbal stem cells transplantation and achieved a satisfactory surgical outcome.

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Do you know this syndrome?

Anais Brasileiros de Dermatologia ◽

10.1590/s0365-05962012000300029 ◽

2012 ◽

Vol 87 (3) ◽

pp. 495-497

Author(s):

Luiz Maurício Costa Almeida ◽

Michelle dos Santos Diniz ◽

Lorena dos Santos Diniz

Keyword(s):

Multidisciplinary Approach ◽

Goldenhar Syndrome ◽

Clinical Aspects ◽

Genetic Syndrome ◽

Live Births ◽

Mandibular Hypoplasia ◽

Radiologic Findings ◽

Branchial Arches ◽

Skin Tags ◽

Systemic Manifestations

Goldenhar syndrome is a sporadic or inherited genetic syndrome characterized by limbal dermoids, preauricular skin tags and mandibular hypoplasia. Vertebral abnormalities may occur. The incidence of this syndrome ranges from 1 in 5,600 to 1 in >20,000 live births. It consists of abnormalities involving the first and second branchial arches. The etiology of the syndrome is heterogeneous. Diagnosis should be based principally on clinical aspects, which should be associated with the patient's systemic conditions and radiologic findings. Treatment depends on the patient's age and systemic manifestations, with a multidisciplinary approach often being required.

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Goldenhar syndrome with skin tags on the chest wall

Egyptian Journal of Medical Human Genetics ◽

10.1016/j.ejmhg.2011.06.001 ◽

2011 ◽

Vol 12 (2) ◽

pp. 217-220 ◽

Cited By ~ 1

Author(s):

Rabah M. Shawky ◽

Sally S. Zahra

Keyword(s):

Chest Wall ◽

Goldenhar Syndrome ◽

Skin Tags

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Goldenhar syndrome: a rare entity

International Journal of Contemporary Pediatrics ◽

10.18203/2349-3291.ijcp20173172 ◽

2017 ◽

Vol 4 (5) ◽

pp. 1897 ◽

Cited By ~ 1

Author(s):

Tariq Harris ◽

Mohammed Abdul Bashith ◽

Manas M. Shanbhag ◽

Moideen Faheem

Keyword(s):

Multidisciplinary Approach ◽

Systemic Treatment ◽

Obstructive Hydrocephalus ◽

Severe Form ◽

Goldenhar Syndrome ◽

Branchial Arches ◽

Hydrocephalus Treatment ◽

Ophthalmic Treatment ◽

Cns Malformations ◽

Limbal Dermoid

Goldenhar syndrome was first described by Maurice Goldenhar in 1952 it involves abnormalities in the first and second branchial arches. This syndrome appears to have varying degree of presentation from mild to severe form. Different pathophysiological mechanisms have been proposed .Oculo auriculo vertebral syndrome which includes reduction in blood flow resulting in focal haemorrhage in the first and second branchial arches. In addition there may be cardiac vertebral and CNS defects. A male baby 30-32 wks, preterm SGA was admitted in NICU for evaluation of Congenital Malformations which includes swelling of the anterior border of both eyes with b/l preauricular ear tags, malformed pinna, high arched palate and micrognatia ophthalmology examination revealed b/l limbal dermoid inferotemporal aspect. ECHO done revealed ASD 4mm.CT scan showed obstructive hydrocephalus. Treatment of the condition varies according to the severity. Ophthalmic treatment aimed first because of amblyogenic risk. Craniofacial surgery in view of severe micrognathia systemic treatment may be related to cardiac, renal and CNS malformations. Goldenhar Syndrome is a rare congenital anomaly, with cosmetic defects whose treatment may pose numerous challenges with multidisciplinary approach for optimal management.

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Isolated bilateral limbal dermoid, preauricular skin tags and ametropic amblyopia

BMJ Case Reports ◽

10.1136/bcr-2021-245078 ◽

2021 ◽

Vol 14 (8) ◽

pp. e245078

Author(s):

Aarzoo Juneja ◽

Athul Suresh Puthalath ◽

Neeti Gupta ◽

Prashant Kumar Verma

Keyword(s):

Skin Tags ◽

Limbal Dermoid

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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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Atypical Goldenhar Syndrome: A Case Report

Journal of Clinical Pediatric Dentistry ◽

10.17796/jcpd.31.2.e0134061u2670829 ◽

2007 ◽

Vol 31 (2) ◽

pp. 118-122 ◽

Cited By ~ 4

Author(s):

Ashok Kumar Jena ◽

Ritu Duggal

Keyword(s):

Case Report ◽

Left Hemisphere ◽

Facial Asymmetry ◽

The Other ◽

Goldenhar Syndrome ◽

Additional Finding ◽

Skin Tags ◽

Characteristic Features

A patient with atypical Goldenhar syndrome is reported. The characteristic features similar to the other reported cases are facial asymmetry, multiple skin tags, limbal dermoids and posteriorly angulated ear. The atypical intraoral feature is unilateral presence of multiple complex odontomes. The hypotrophy of left hemisphere with localized calcification in the occipital and parietal regions of brain is also an additional finding in this patient.

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A Constellation of Rare Findings in a Case of Goldenhar Syndrome

Case Reports in Pediatrics ◽

10.1155/2017/3529093 ◽

2017 ◽

Vol 2017 ◽

pp. 1-4

Author(s):

Mitesh Bedi ◽

Rakesh Kumar Jain ◽

Vipin Kumar Barala ◽

Abhimanyu Singh ◽

Hiranmayi Jha

Keyword(s):

Aortic Arch ◽

Respiratory Symptoms ◽

Goldenhar Syndrome ◽

Pulmonary Agenesis ◽

Rare Association ◽

Skin Tags ◽

Vertebral Anomalies

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.

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Clinical Manifestations of Goldenhar Syndrome

The Professional Medical Journal ◽

10.29309/tpmj/2013.20.04.1128 ◽

2013 ◽

Vol 20 (04) ◽

pp. 617-622

Author(s):

FUAD AHMAD KHAN NIAZI ◽

ABDUL MUNIM KHAN ◽

MANAL NIAZI ◽

Muhammad Afzal Khan Niazi

Keyword(s):

Nerve Palsy ◽

Clinical Presentation ◽

Clinical Manifestations ◽

Case Series ◽

Goldenhar Syndrome ◽

Hemifacial Microsomia ◽

Upper Lip ◽

Mandibular Hypoplasia ◽

Planning Treatment ◽

Limbal Dermoid

Goldenhar syndrome is a congenital disorder with diverse clinical presentation. This case series describes variousclinical manifestations of Goldenhar Syndrome. Materials and Methods: 11 patients at least two of the described features of Goldenharsyndrome were randomly included in the study to form a case series. Clinical data of all these subjects was documented, described inpercentages and analyzed. Results: Out of the 11 patients studied, 6 were females and 5 males. Mean age was 7.3 years (ranging from 1year to 23 years). 7 (63.6%) patients had a limbal dermoid, 6 (54.5%) patient had mandibular hypoplasia, whereas only 3(27.3%)presented with hemifacial microsomia. Spinal defects and polydactyly were present in (36.4%) patients each. There was one patient (9%)who had both microphthalmia and lid coloboma in addition to limbal dermoid. Similarly, renal defect (atrophic kidney), cleft upper lip andpalate and CNS defect (7th nerve palsy) were present in one patient (9%) each. None of our patients had either cardiac or GIT defect.Conclusions: In our study we were able to document the variable manifestations of Goldenhar syndrome with their frequencies. Thisknowledge base will help us in planning treatment and assistance strategies or these patients.

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SURGICAL MANAGEMENT OF CORNEAL LIMBAL DERMOIDS BY SIMPLE EXCISION

10.36106/ijar/0312810 ◽

2021 ◽

pp. 1-2

Author(s):

Birjees Hakak ◽

Syed Tariq Qureshi ◽

Haniyaa Mufti

Keyword(s):

Age Groups ◽

Goldenhar Syndrome ◽

Female Ratio ◽

Medical College ◽

Simple Excision ◽

Temporal Quadrant ◽

Male To Female ◽

Systemic Associations ◽

Limbal Dermoid

Aim: To study clinical features and surgical outcomes of limbal dermoid excision in Kashmiri patients. Study Design :Interventional, Prospective Material and Methods: 20 patients with epibulbar limbal dermoid who attended the Out Patient department of Government Medical College ,Srinagar, from August 2019 to September 2020, across all age groups were included in the study. All the patients were examined for site, colour, presence of pigmentation and presence of ocular and systemic associations of the lesions and then surgically managed. Simple Excision was done with blade and scissors. Postoperative follow up was done upto 3 months Results: The age group included was 4 to 60 years with male to female ratio 3:2. All the patients had unilateral epibulbar dermoids located at infero-temporal quadrant of the limbus. Most lesions (13 cases - 65%) extended equally to cornea and sclera while a few extended more on the sclera (3 cases - 15%) or cornea (3 cases - 15%). Most (15 cases - 75%) were round. Two (10%) had Goldenhar Syndrome and both had preauricular tags and maxillary hypoplasia. Postoperatively one patient (5%) had corneal thinning and two(10%) patients had granulation tissue formation.Pigmentation of the lesion was seen in 18 cases (80%). Conclusion:Limbal dermoids in Kashmiri patients have clinical characteristics resembling those described in other parts of the world. Treatment with simple excision and supercial sclerokeratectomy gives satisfactory results.

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