Goldenhar Syndrome An Unusual Case Report

Volume 5, Issue 12, December – 2020 International Journal of Innovative Science and Research Technology
ISSN No:-2456-2165
Goldenhar Syndrome: An Unusual Case Report

VinitkumarKamble,1,2 Sharad Gupta,1 Reena Yadav 1, Satbodh Shrestha 1Arbind Ray, 3,4 Sushma Chaudhary 3
1
Ophthalmologist, Sagarmatha Choudhary Eye Hospital, (SCEH), Lahan,
2
IGIMS Medical College, Patna. Bihar,India
3
Optometrist, Sagarmatha Choudhary Eye Hospital, (SCEH), Lahan,
4
Optometry, Dr. RP Centre AIIMS New Delhi.
ORCID:https://orcid.org/0000-0003-4170-0954
Abstract:- Goldenhar syndrome is a rare and sporadic of limbal dermoid (5 x 5 mm) in infero-lateral
condition of unknown etiology characterized by a regioncovering half of the cornea. (Fig 1) Anterior segment
combination of anomalies: oculo-auriculo-vertebral of the left eye as well as posterior segment of both eyes
(OAV) dysplasia, auricular appendices, dermal were normal.On further examination of the right ear two pre
epibulbar cysts and malformation of the ears.Here, we auricular skin tagswere seen whereas the left ear was
report an unusual case of Goldenhar syndrome with skin normal. (Fig2). However, she didn’t give any history
lesion suggestive of xeroderma pigmentosa.Patient with suggestive of hearing impairment. Audiometry along with
Goldenhar syndrome has inconsistent presentation and X-ray para nasal sinus (PNS) waswithin normal limit. On
can affect the various parts of the body.Multidisciplinary oral examination microdontia was seen (Fig
approach is mandatory for early diagnosis and 3)Cardiovascular, central nervous and Musculo skeleton
managementto avoid from severe complications in later system examination were within normal limit. Patient was
stage of life. referred to higher center for further examination to rule
other systemic anomalies.Examination of skin revealed
Keywords:- Goldenhar syndrome, Oculoauriculovertebral, black brownish hyperpigmented lesion in sun exposed area
Preauricular tags, Vertebrae. suggestive of xeroderma pigmentosa. (Fig 4) Patient was
sent for dermatological consultation for further management
I. INTRODUCTION but she didn’t come for follow up.
Goldenhar syndrome is a rare congenital condition of Without above findings patient was diagnosed with
unknown etiology which was first reported by a Swiss Goldenhar Syndrome with multiple skin lesions suggestive
OphthalmologistMaurice Goldenhar in 1952.1It is also of xeroderma pigmentosa.
known as oculo-auriculo-vertebral (OAV) dysplasia which
mainly arises from defects in the first and second brachial III. DISCUSSION
arches. 1,2Few literatures reported that the frequency of
Goldenhar syndrome would be 1:35,000-1:56,000 with a Goldenhar syndrome is a rare and sporadic condition
male to female ratio of 3:2.3Various etiological factors; of unknown etiology characterized by a combination of
abnormalities of chromosomes, neural crest cells, ingestion anomalies: oculo-auriculo-vertebral (OAV) dysplasia,
of drugs during pregnancy such as thalidomide, cocaine, auricular appendices, dermal epibulbar cysts and
retinoic acid, tamoxifen, exposure to tobacco or herbicides, malformation of the ears.1,2
malnutrition, maternal diabetes and intake of alcohol would
be plausible caused for the evolution of the disease..4 The incidence of this syndrome is 1:3000 to 1:26,500
Xeroderma Pigmentosum (XP) is a rare autosomal recessive witha male predominance.GHS is a raredisorder of multiple
genetic disorder due to defective in DNA repair which leads congenital anomalies and are consistent with autosomal
to extremeclinical and cellular hypersensitivity to ultraviolet dominant, recessive and multifactorial patterns of
radiation.Few studies reported that approximately 80% and inheritance. 3GHS might be a result of fertilization of an
20% of XP have ocular and neurological complications over ripe ovum and hereditary pattern being the causative
respectively.5 agent for it. 6
Previous report hypothesised
thatembryologicallymesoblasts are being affected by some
II. CASE REPORT abnormal mechanism which in turnaffects the branchial and
vertebral development systems late in the first trimester
Aneleven-year-oldfemale patient presented with chief resulting the syndrome with multiple anomalies. 7Baum and
complaints of diminution of vision along with painless Feingold et al. stated that Goldenhar syndrome occurs in
swelling in the righteye since birth. On examination her best sporadic fashion during embryogenesis state which could be
corrected visual acuity was 6/36 and 6/6 in the right eye and elucidated by epigenetic change, reduced penetrance or
left eyerespectively.Ocular examinationof both eyes somatic mosaicism. 8,9,10Gomez et al. postulated that
revealed full extraocular movements in all cardinal gazes. implementation of cholecystographybetween the fourth and
Slit lamp bio-microscopic examination divulgedmultiple sixth weeks of pregnancy would be the etiological hallmark
brown black pigmented conjunctival lesions in both eyes of the syndrome. 11
whereasright eye had skin colored round lesion suggestive
IJISRT20DEC120 www.ijisrt.com 89
ISSN No:-2456-2165
In classic Goldenhar syndrome patient shows given in following table. 12
characteristic ocular,auricular,facial and vertebral features as
Ocular manifestations Epibulbar dermoid or lipo dermoid (mostly bilateral), colobomas of the upper eyelid, iris,
choroid and retina. Other eye anomalies (microphthalmia, anophthalmia, cataract, astigmatism,
antimongoloid obliquity of palpebral fissures and blepharophimosis.
Auricular manifestations Preauricular skin tags, microtia, middle and internal ear anomalies
Facial and oral manifestations Unilateral facial hypoplasia, prominent forehead, hypoplasia of the zygomatic area, maxillary
and mandibular hypoplasia, unilateral macro stomia
Vertebral anomalies Vertebral column anomalies, rib anomalies and anomalies of extremities
Miscellaneous anomalies Congenital heart disease, ventricular septal defect, anomalies of the urogenital (ectopic
kidney), gastrointestinal system, anomalies of central nervous system, mental retardation
Management consist supportive multidisciplinary [4]. Araneta MR et al.. Goldenhar syndrome among infants
approach with the help of pediatrician, dental surgeon, born in military hospital to Gulf war veterans.
dermatologist, ophthalmic and ear surgeons. Early diagnosis Teratology. 1997;56(4):244–251. [PubMed]
and prompt management would be recommended in each [5]. Norgauer J et al. Xeroderma pigmentosum. Eur J
case of Goldenhar syndrome. Dermatol. 2003; 13:4–9. [PubMed]
[6]. Mellor DH, Richardson JE, Douglas DM. Goldenhar's
IV. CONCLUSION syndrome. Oculoauriculo-vertebral dysplasia. Arch
Dis Child 1973;48(7):537-1. [DOI]
GHS is associated with various congenital anomalies. [7]. Martelli-Junior H et al. Goldenhar Syndrome: Clinical
Multiple approachesare required for prompt diagnosis and Features with Orofacial Emphasis. J Appl Oral Sci.
management to avoid from severe complications as well as 2010; 18(6):646-9. [DOI]
to lessen the emotional, physical and financial burden of [8]. Tasse C et al. A family with autosomal dominant
children. oculo-auriculo-vertebral spectrum. Clin Dysmorphol.
2007;16(1):1-7. [DOI]
REFRENCES [9]. Baum JL, Feingold M. Ocular aspects of Goldenhar's
syndrome. Am J Ophthalmol 1973;75(2):250-
[1]. Goldenhar M. Associations malformatives de l’oeil et 7. [DOI]
l’oreille, en particulier le syndrome [10]. De Golovine S, Wu S, Hunter JV, Shearer WT.
dermoideepibulbaire-appendices auriculaires-fistula Goldenhar syndrome: A cause of secondary
auris congenita et ses relations avec la immunodeficiency? Allergy Asthma Clin Immunol
dysostosemandibulo-faciale. J Genet Hum. 1952; 2012;8:10. [DOI]
1:243–82. [Google Scholar] [11]. Achalli S, Babu SG, Patla M, Madi M, Shetty SR.
[2]. Gorlin RJ, Cohen MM, Hennekam RC. Syndromes of Goldenhar syndrome: A case report and review.
the Head and Neck. 4th ed. New York: Oxford Chrismed J Health Res. 2017; 4(2): 150-4.[DOI]
University Press, 2001:1332 p. [DOI] [12]. . Kokavec R. Goldenhar syndrome with various
[3]. Ashokan CS, Sreenivasan A, Saraswathy GK. clinical manifestations. Cleft Palate Craniofac J. 2006;
Goldenhar syndrome. Review with case series. J Clin 43(5): 628-4.[DOI]
Diagn Res. 2014;8(4): 17–19. [PubMed]
ISSN No:-2456-2165
FIGURES:
Fig 1: Right eye showing inferotempotal dermoid covering nearly half of cornea.
Fig 2: Two pre auricular skin tags present in the right side.
Fig 3: Showing microdontia
ISSN No:-2456-2165
Fig 4: Examination of skin revealed black brownish hyperpigmented lesion in sun exposed area suggestive of xeroderma
pigmentosa.
Picture A, B, C, D shows second case of Goldenhar syndrome in a new born child.
A B
CD
Picture A and D shows a one-month-old child with left eye temporal limbal dermoid. Picture B and C shows a same child with left
side preauricular skin tag suggestive of Goldenhar syndrome.

Goldenhar Syndrome An Unusual Case Report

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Volume 5, Issue 12, December – 2020 International Journal of Innovative Science and Research Technology

Goldenhar Syndrome: An Unusual Case Report

Fig 3: Showing microdontia

Picture A, B, C, D shows second case of Goldenhar syndrome in a new born child.

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