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   Table of Contents      
ARTICLES
Year : 1973  |  Volume : 21  |  Issue : 2  |  Page : 88-89

Oculoauriculovertebral dysplasia (Goldenhar's syndrome)


Department of Ophthalmology, King Edward Memorial Hospital, Bombay-12, India

Correspondence Address:
R P Jehangir
Department of Ophthalmology, King Edward Memorial Hospital, Bombay-12
India
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Source of Support: None, Conflict of Interest: None


PMID: 4789119

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How to cite this article:
Jehangir R P. Oculoauriculovertebral dysplasia (Goldenhar's syndrome). Indian J Ophthalmol 1973;21:88-9

How to cite this URL:
Jehangir R P. Oculoauriculovertebral dysplasia (Goldenhar's syndrome). Indian J Ophthalmol [serial online] 1973 [cited 2019 Oct 22];21:88-9. Available from: http://www.ijo.in/text.asp?1973/21/2/88/31403

In 1952, GOLDENHAR [2] reported a syndrome consisting of (1) Epibulbar Dermoids, (2) Pr.--auricular append­ages and/or Pretragal fistulae and (3) Vertebral anomalies. This paper reports a case of Goldenhai's syndrome studied in our Hospital.


  Case History Top


H. R. A six year old male child came with the history of a white nodule in his left eye, present since birth, which was gradually increasing in size. The parents had also noticed disfigurement of the left ear and the left side of the jaw since birth. Pregnancy, labour and delivery were uneventful. "

Ocular Findings: A limbal dermoid cyst was situated at the limbus-of the left eye in the infero-temporal quadrant. The surface was uneven and 2-3 hair were projecting out from its surface. A sub-conjunctival dermo­lipoma was situated in the superior temporal quadrant. - The vision in the right eye was 6/9 and in the left eye, it was finger counting 2 meters. The left eye refraction showed mixed astigmatism and the corrected visual acuity was 6/36. The fundus was normal. There was no coloboma of either the upper or the lower lid. The ocular movements were normal and there was no squint.

Auricular Findings

The left external ear was missing and was replaced by 4 auricular appendices representing the pinna, with 2 pits in between representing the external auditory meatus. The internal auditory meatus was not palpable beneath the skin over the temporal bone.

There was hypoplasia of the left jaw with an underdeveloped mandible on the left side. The child had a high arched palate and micrognathia. The tuning fork test showed diminish­ed hearing on the left side. Malocclu­sion of the teeth was noticed.

X-Ray studies showed maldevelop­ment of the mandible, congenital bifid or hemivertebrae at the level of the 6th and 7th cervical vertebrae. There was spina bifida and anterior fusion of the right 2nd and 3rd ribs. The skull x-rays were normal.


  Discussion Top


Goldenhar's syndrome is a con­genital anomaly involving the struc­tures developed from the 1st and 2nd branchial arches, the 1st pharyngeal pouch, the 1st branchial cleft and the primordia of the temporal bone. One hundred and two cases have been reported so far but only one is from India by GUPTA AND PRASHAR. [3] Their case had hydrocephalous as an associated finding. The ocular find­ings which are known to occur are summarised by BAUM AND FEINGOLD, [1]as follows: Epibulbar dermoid lipo­dermoid, irregular astigmatism, extra­ ocular muscle defect, coloboma of the upper lid, ptusis, antimongoloid slant of the eyes, microcornea and eye brow abnormality. Auricular defects include preauricular appendices, micro­tia, atresia of external auditory meatus, deafness and posteriorly placed ear. Oral manifestations include aplasia or hypo plasia of the ramus and condyle of the mandible, facial hypoplasia, mi rugnathia, maxil­lary hypoplasia, high arched palate, cleft palate, malocclusion of teeth and open bite. Vertebral anomalies include spina bifida occulta, block vertebrae, cervical rib, and fusion of vertebrae.


  Summary Top


A case of Goldenhar's syndrome is presented having Timbal epidermoid, lipodermoid, auricular appendices, mandibular hypoplasis, hemivertibrae, spina bifida and fusion of 2 ribs.

 
  References Top

1.
Baum J. L. and Feingold M.: Ocular manifestations of Goldenhar's syn­drome, oculoauriculovertebral dys­plasia XXI Concilium ophthal­mologicum Mexico 1970. Page 1361; Excerpta Medica Amsterdam 1971.  Back to cited text no. 1
    
2.
Goldenhar M.: Associations malfor­mative de l'oeil et de l'oreille, enparticulier le syndrome dermoide epibulbaire-appendices auriculaires ­fistule auris congenita et ses rela­tions avec Ia dysotose mandibulo faciale. J. Genet. hum. 1: 243 (1952).  Back to cited text no. 2
    
3.
Gupta J. S., Gupta S. D. and Prashar S. K.: Oculoauricular cranial dys­plasia. Brit. J. ophthal.. 52: 346 (1968).  Back to cited text no. 3
    


    Figures

  [Figure - 1], [Figure - 2]



 

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