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ORIGINAL ARTICLE
Year : 1982  |  Volume : 30  |  Issue : 3  |  Page : 147-149

Goldenhar's syndrome


Department of Ophthalmology, Jawaharlal Institute of Post-Graduate Medical Education and Research, Pondicherry, India

Correspondence Address:
Vasudev Anand Rao
Department of Ophthalmology, Jawaharlal Institute of Post-Graduate Medical Education & Research, Pondicherry
India
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Source of Support: None, Conflict of Interest: None


PMID: 7174059

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How to cite this article:
Rao VA, Rao S, Lamba P A. Goldenhar's syndrome. Indian J Ophthalmol 1982;30:147-9

How to cite this URL:
Rao VA, Rao S, Lamba P A. Goldenhar's syndrome. Indian J Ophthalmol [serial online] 1982 [cited 2020 Jul 4];30:147-9. Available from: http://www.ijo.in/text.asp?1982/30/3/147/28195

Table 1

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Table 1

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In 1952 Goldenhar[1] described a syndrome comprising of epibulbar dermoid lipodermoid, auricular appendages and pretragal fistulae. This syndrome is also known as oculoauri­cular dysplasia[2] or oculo-auricula vertebral dysplasia[3]. Other clinical findings reported in this syndrome are coloboma of upper lid, microphthalmos, micrognathia, macrostomia and mental retardation[2],[4].

The purpose of the present communication is to analyse 10 cases of this rare syndrome and to report some additional features.


  Observations Top


Summary of the important features in these 10 cases is given in [Table - 1].


  Discussion Top


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[3] 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[5] 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[6] 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[3] 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[7] 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[8]. 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[8],[11], The cause of the syndrome is obscure, Possible causes suggested are rubella infection or influenza[12]. 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 Top


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 Top

1.
Goldenhar, M., 1952, J. Genet. Hum. 1 : 243.  Back to cited text no. 1
    
2.
Duke Elder, S., 1964, System of Ophthalmology, Vol. III, p. 1021, Henary Kimpton, London.  Back to cited text no. 2
    
3.
Sugar, H.S., 1966, Amer. J. Ophthalmol. 62: 678.   Back to cited text no. 3
    
4.
Geeraets, W.J., 1969, Ocular. syndrome 2nd edn. p. 96, Lea and Febiger, Philadelphia.  Back to cited text no. 4
    
5.
Nema, H.V., Mathur, J.S., Ganguly S.P. and Mehra, K.S., 1970, Orient. Arch. Ophthalmol. 8 : 296.   Back to cited text no. 5
    
6.
Mann, I. 1957, Developmental abnormalities of the eye. 2nd Edn. p. 359, J.B. Lippincott. Co., Phildel­phia.  Back to cited text no. 6
    
7.
Sen, D.K., Hari Mohan and Gupta, D.K., 1969, Acta Ophthalmol. 47 : 1044.  Back to cited text no. 7
    
8.
Gorlin R.J., Jue, K.L., Jacobsen, V. and Gold­sschmidt E. 1963 J. Paediatr. 63 :991.  Back to cited text no. 8
    
9.
Gupta, J.S., Gupta, S.D. and Prashar, S.K. 1968, Brit. J. Ophthalmol. 52 .346.  Back to cited text no. 9
    
10.
Jain, I.S., JUginder Kumar, Nagpal, K.C., Bansal, R.N. and Singh, K.M., 1973, Ind. J. Ophth­almol. 21, 2: 84.  Back to cited text no. 10
    
11.
Berkman, M.D., and Feingold, M., 1968, Oral Surg. 25 :408.  Back to cited text no. 11
    
12.
Smithells, R.W., 1964, Rev. Med. Child. Neurol. 6 :406.  Back to cited text no. 12
    


    Figures

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    Tables

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