|Year : 1973 | Volume
| Issue : 2 | Page : 88-89
Oculoauriculovertebral dysplasia (Goldenhar's syndrome)
Department of Ophthalmology, King Edward Memorial Hospital, Bombay-12, India
R P Jehangir
Department of Ophthalmology, King Edward Memorial Hospital, Bombay-12
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Jehangir R P. Oculoauriculovertebral dysplasia (Goldenhar's syndrome). Indian J Ophthalmol 1973;21:88-9
In 1952, GOLDENHAR  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|| |
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.
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|| |
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.  Their case had hydrocephalous as an associated finding. The ocular findings which are known to occur are summarised by BAUM AND FEINGOLD, 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|| |
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|| |
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.
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).
Gupta J. S., Gupta S. D. and Prashar S. K.: Oculoauricular cranial dysplasia. Brit. J. ophthal.. 52: 346 (1968).
[Figure - 1], [Figure - 2]