|Year : 1973 | Volume
| Issue : 2 | Page : 84-87
IS Jain, Juginder Kumar, KC Nagpal, RN Bansal, KM Singh
Department of Ophthalmology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
I S Jain
Department of Ophthalmology, Postgraduate Institute of Medical Education and Research, Chandigarh
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Jain I S, Kumar J, Nagpal K C, Bansal R N, Singh K M. Goldenhar syndrome. Indian J Ophthalmol 1973;21:84-7
GOLDENHAR  was the first to describe this rare syndrome of ocul-auriculovertebral dysplasia. The epibulbar dermoid or dermolipoma, auricular abnormalities like auricular appendages, pretragal blind fistulas, disturbances of external auditary meatus and deafness constitute some of the features of this syndrome. SUGAR  later added to the syndrome a number of vertebral anomalies like occipitalisation of atlas, cervical vertebral synostosis, super-numerary thoracic or lumbar vertebrae and aplasia of sacral vertebrae.
Other associations which have been reported in these cases are hemifacial hypoplasia, a fibrous band between the angle of the mouth and tragus. Some rare associations recorded in the literature are microstomia, micrognathia, high vaulted palate, bifid tongue, cleft palate, malocclusion and other dental anomalies and hydrocephalus (GORLIN AND PINDBORG)  .
The authors feel that reporting of the following two typical cases, might be of clinical interest.
| Case Reports|| |
Case No. I. A. R. 14 years female reported to the Eye OPD on 24-4-1970 with the complaints of a yellowish pink swelling in the outer part of the right eye. This swelling had been present since birth. There was no history of any marked increase in the size. She also complained of under development of the right half of the face and ear abnormalities, which were present since birth as confirmed by her mother. There was no family history of similar findings in the siblings or parents.
On examination the patient was well built and nourished. The face showed underdevelopment of the left half involving the maxilla and the mandible. The right half of the face appeared normal [Figure - 1]. There was a tongue shaped area of alopecia encroaching from the forehead on to the scalp- on the right side. [Figure - 2] No thickening of the skin or scarring in this area was seen. The right orbital opening appeared to be at a lower level as compared to the left. The palpebral fissure showed slight down and out slant but there was no notching of the lower or upper lid. There was a yellowish pink mass under the outer canthus. It was a smooth and soft mass, posterior limit of which could not be seen. From above downwards it was extending from the superior to the inferior fornix. It could be moved over the underlying structure and conjunctiva over it could also be moved. The mass was not tender and did not show any bleeding points. The anterior segment was essentially normal. The fundus did not show any abnormality. The visual acuity was 6/9 unaided and improved to 6/6 with the help of-0.5D sph. The intra-ocular pressure was 15 mm Hg. The left eye was normal.
The right ear showed a few rudimentary processes which : had been rearranged surgically to mimick the pinna. It was much smaller than normal [Figure - 2]. There was a small dimple in place of the external auditory meatus. There was a scar mark above and behind the ear. No aural fistula could be seen. The left external ear was essentially normal. There was a blind pretragal pouch about one inch long and half inch broad. It was attached to the pretragal skin and was free at the other end. Below this there was another small nodule. The external auditory meatus was narrow and oval in shape. There was mucopurulent discharge in it. On removing the discharge a central perforation was seen on the drum. The Weber test was localised to the right side. The Rinne's test on the right side showed that bone conduction was better than air conduction. The Rinne test on the left side was normal. All these pointed toward a conduction defect on the right side.
The dental examination showed malocclusion and diastma. There was no cleft lip, cleft palate or high arched palate.
Various routine investigation like, haemoglobin, total and differential leucocytic count. Urine and Stool examination were normal. X-Ray skull and cervical vertebrae showed occipitalisation of the atlas and synostosis of the 2nd and 3rd cervical vertebrae [Figure - 3]. X-Ray skull in the P. A. view showed hypoplasia of the right maxilla and mandible. The. dorsal and the lumbar vertebrae were normal.
Case No. 2
H. K..5½ years female reported to the Eye OPD with the complaints of a swelling in the outer portion of the right eye and deformity of the angle of the mouth since birth. The swelling had not markedly increased in size. She also complained of small swellings on the left. cheek and in front of bcth the ears since birth. There was no family history of similar findings in the parents or siblings.
On examination the patient was found to be moderately built and nourished. The face was symmetrical and there was no hypoplasia of either side. There was macrostomia and on the left side the lips were not united. The upper lip was overhanging on the lower lip. There were two small swellings on the left cheek. The examination of the ears showed supernummerary external pinnae on both sides. There was no other abnormality [Figure - 4]. Dental examination showed malocclusion.
Ocular examination revealed that the left eye was essentially normal. In the right eye, there was a pinkish swelling in the outer canthus [Figure - 5]. This was extending from the superior to the inferior fornix and the anterior border was about 5 mm from the limbus. The posterior border could not be seen. The surface of the swelling was smooth. On palpation it was found to be soft, nontender and its temperature was not raised. It was movable on the underlying structures. The clinical diagnosis was Dermolipoma, which was confirmed by a histological examination of an excised portion. The routine investigations were normal. X-ray of the cervical spine showed synostosis of second and third cervical vertebrae.
| Comments|| |
Two typical cases of Goldenhar Syndrome are presented showing many features characteristic of the syndrome. The first case showed epibulbar dermolipoma, ear abnormalities such as absent external ear, blind pretragal pouches, deafness, hypoplasia of the face on the right side, spinal anomalies like occipitalisation of the atlas and synostosis of the second and third cervical vertebrae. The patch of alopecia seen in this case has not been described before in cases of Goldenhars  Syndrome; rather a low plantation of hair on brow have been described. (TRANOS). The second case also shows many typical features like epibulbar dermolipoma, pretragal blind pouches and cervical spinal anomalies like synostosis of the second and third cervical vertebrae. The additional features seen in this case are macrostomia and small projections on the cheek on the left side.
Though most of the features encountered are also seen in mandibulofacial dysostosis and hernifacial microstomia but the spinal features are diagnostic of the syndrome, (GORLIN AND PINDBORG).
No hereditary basis was present in in these cases. Involvement of visceral mesoblast that induces the branchial system is believed to be the basis of this syndrome (NEIMANN et al)  and the vertebral involvement is believed to be due to involvement of parachordal mesoblast that induces nervous system and its protective tissue.
| Summary|| |
Two cases with the different features of Goldenhars Syndrome are described.
| References|| |
Franos, L.: Mandibulofacial dysostosis Associated with Dermolipoma of conjunctiva. Am. Journal Ophthal. 37: 354 (1954).
Goldenhar, M.: Associations malformation de l'oeil et al. 'oveille, en particular le syndrome dermoide epibulbare-apphendices auricularis fistula auris congenita et ses relations over la dysotose mandibulo. J. Genet. hum. 1: 243 (1952).
Gorlin, R. J. and Pindborg J. J.: Syndromes of head and neck. McGraw-Hill Book company London, Page 422.
Neimann N. et al: Semain Hospital Paris: 36: 2632-2644, (1960) Page 419.
Sugar, H. S.: Mandibulofacial dysostosis Am. J. Ophth. 66, 510: 1968.
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5]