|Year : 1982 | Volume
| Issue : 3 | Page : 147-149
Vasudev Anand Rao, Sudhakara Rao, PA Lamba
Department of Ophthalmology, Jawaharlal Institute of Post-Graduate Medical Education and Research, Pondicherry, India
Vasudev Anand Rao
Department of Ophthalmology, Jawaharlal Institute of Post-Graduate Medical Education & Research, Pondicherry
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Rao VA, Rao S, Lamba P A. Goldenhar's syndrome. Indian J Ophthalmol 1982;30:147-9
In 1952 Goldenhar described a syndrome comprising of epibulbar dermoid lipodermoid, auricular appendages and pretragal fistulae. This syndrome is also known as oculoauricular dysplasia or oculo-auricula vertebral dysplasia. Other clinical findings reported in this syndrome are coloboma of upper lid, microphthalmos, micrognathia, macrostomia and mental retardation,.
The purpose of the present communication is to analyse 10 cases of this rare syndrome and to report some additional features.
| Observations|| |
Summary of the important features in these 10 cases is given in [Table - 1].
| Discussion|| |
The youngest patient was 5 months old and the oldest 25 years. Most of the patients presented in the 1st decade. Incidentally it was observed that 9 cases were males.
Epibulbar dermoid and corneal dermoid was present in all cases [Figure - 1]a. In 4 cases the tumour was bilateral. According to Sugar these tumours are bilateral in about two thirds of cases 2 cases the epibulbar dermoids were excised from both eyes. In one case the histopathological diagnosis was haemartoma. Nema et a1 have also reported haemartoma in this syndrome.
In 4 cases there was coloboma upper lid [Figure - 1] c. in 3 of these there was exposure keratitis. Mann believed that the dermoid formation which precedes the lid formation, prevents the down growth of the lid and results in a coloboma of lid. Sugar found coloboma upper lid in 60% of patients. In one case the coloboma lid was surgically repaired with good cosmetic results.
Other ocular findings in the present study included ptosis [Figure - 1]d, limitation of movements, enophthalmos, microcornea.
Auricular appendages were unilateral in 7 cases and bilateral in 3. These appendages were more often multiple and were located in front of the tragus [Figure - 1]c. In 2 cases pretragal fistulae were seen and in 2 cases there was deafness. Sen et a1 also reported deafness in this syndrome.
Vertebral column anomalies may be seen clinically as Kyphosis. Scoliosis or as a tuft of hair over the sacral region. Radiologically spina bifida was seen in one case, hemivertebrae in 2 cases [Figure - 1]f and third rib was absent on left side in one case [Figure l]g Hemivertebrae are often accompanied by congenital hypoplasia or aplasia of lung with the heart shifted to the other side. In our cases, however both respiratory and cardiovascular systems were normal.
Rare observation in the present study were umbilical hernia, unilateral pigmentation of skin [Figure - 1] h. cystic changes in the lung, mental retardation, frontal bossing, hair lip and cleft palate.
Goldenhar's syndrome is rare. The basic defect lies in the maldevelopment of the first and second branchial arches. Any interference with the embryonic blood supply during the critical third to fifth week of gestation may result in the malformation of these structures,, The cause of the syndrome is obscure, Possible causes suggested are rubella infection or influenza. In the present study we came across 10 cases of this syndrome. Consanguineous marriage and malnutrition which are prevalent in this part of the country may be contributory factors.
| Summary|| |
10 cases of Goldenhar's syndrome from South India have been analysed highlighting the clinical features. It is hypothesized that consanguineous marriages and malnutrition may be contributory factors.
| References|| |
Goldenhar, M., 1952, J. Genet. Hum. 1 : 243.
Duke Elder, S., 1964, System of Ophthalmology, Vol. III, p. 1021, Henary Kimpton, London.
Sugar, H.S., 1966, Amer. J. Ophthalmol. 62: 678.
Geeraets, W.J., 1969, Ocular. syndrome 2nd edn. p. 96, Lea and Febiger, Philadelphia.
Nema, H.V., Mathur, J.S., Ganguly S.P. and Mehra, K.S., 1970, Orient. Arch. Ophthalmol. 8 : 296.
Mann, I. 1957, Developmental abnormalities of the eye. 2nd Edn. p. 359, J.B. Lippincott. Co., Phildelphia.
Sen, D.K., Hari Mohan and Gupta, D.K., 1969, Acta Ophthalmol. 47 : 1044.
Gorlin R.J., Jue, K.L., Jacobsen, V. and Goldsschmidt E. 1963 J. Paediatr. 63 :991.
Gupta, J.S., Gupta, S.D. and Prashar, S.K. 1968, Brit. J. Ophthalmol. 52 .346.
Jain, I.S., JUginder Kumar, Nagpal, K.C., Bansal, R.N. and Singh, K.M., 1973, Ind. J. Ophthalmol. 21, 2: 84.
Berkman, M.D., and Feingold, M., 1968, Oral Surg. 25 :408.
Smithells, R.W., 1964, Rev. Med. Child. Neurol. 6 :406.
[Figure - 1]
[Table - 1]