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Year : 1992  |  Volume : 40  |  Issue : 2  |  Page : 61-62

Ocular motility disturbances (Duane retraction syndrome and double elevator palsy) with congenital heart disease, a rare association with Goldenhar syndrome-A case report

University College of Medical Sciences, Delhi-110 095, India

Correspondence Address:
Manju J Verma
University College of Medical Sciences, Delhi-110 095
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PMID: 1452286

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This report is a case of a 4 year old male child who was admitted for meningitis. On clinical examination he was diagnosed as a case of oculo-suriculo-vertebral dysplasia with congenital heart disease, i.e., tetralogy of Fallots besides his presenting picture of meningitis. During his ophthalmic checkup for the conspicuous presence of epibulbar dermoid, he was discovered to have upper lid coloboma, double elevator palsy, and Grade 1 Duane retraction syndrome in his right eye while the pathognomic feature, a dermolipoma, was present in the left eye. The oculo-auriculo-vertebral dysplasia, as described by Goldenhar, is a disease complex of structures developed from the Ist and IInd branchial arch. The important feature of this case is the bilateral involvement of the disease complex over and above the presence of ocular motility disorders--Duane retraction syndrome and double elevator palsy.

How to cite this article:
Verma MJ, Faridi M. Ocular motility disturbances (Duane retraction syndrome and double elevator palsy) with congenital heart disease, a rare association with Goldenhar syndrome-A case report. Indian J Ophthalmol 1992;40:61-2

How to cite this URL:
Verma MJ, Faridi M. Ocular motility disturbances (Duane retraction syndrome and double elevator palsy) with congenital heart disease, a rare association with Goldenhar syndrome-A case report. Indian J Ophthalmol [serial online] 1992 [cited 2024 Feb 24];40:61-2. Available from: https://journals.lww.com/ijo/pages/default.aspx/text.asp?1992/40/2/61/24400

  Case report Top

A four year old male child was brought to the emergency department with the presenting features of meningitis. During his stay in the paediatric ward he was diagnosed as a case of congenital heart disease with Goldenhar syndrome. The clinical fea­tures favouring the syndrome were presence of left sided dermolipoma [Figure - 1] and auricular appendage [Figure - 2]. Skeletal survey, when carried out, ruled out any vertebral anomaly. Further ophthalmic examination revealed right sided upper lid coloboma and multiple maculonebular opacities in the cornea, most likely due to the exposure during the meningitis phase. Besides the features of Goldenhar syndrome, a limitation of movements was observed in the right eye on dextrover­sion, dextroelevation, and laevoelevation [Figure - 1][Figure - 5]. On attempted adduction right palpebral aperture was found to be narrower with hypotropia [Figure - 3][Figure - 4]. The left eye did not show any ocular motility disorder. Refractive status of both the eyes was compound myopic astigmatism with anisometropia.

  Discussion Top

Goldenhar syndrome, a well known entity, is also known by various terminologies depending upon the components of the disease complex. This includes craniofacial microsomia, oculo-auriculo-vertebral syndrome, hemifacial microsomia and Ist and IInd branchial arch syndrome. This pathognomic triad includes presence of epibulbar dermolipoma or bulbar dermoid, mishappen or low set ear and vertebral skeletal anomalies [3],[11]

The other commonly observed salient features [3] are coloboma upper lid, cleft lip or palate, asymmetrical mandibulbar hypoplasia, and microstomia. It is also being observed that in nearly half of the cases dermolipoma of conjunctiva and epibulbar dermoid of limbus exist concomitantly [3]. About 2/3rd of patients show vertebral anomalies too.

Other unusual associated features comprise ocular motility problems like Duane retraction syndrome besides such rare accomplishments as lacrimal duct stenosis and iris and choroid colobomas [1],[2],[3],[4],[7],[8] The presence of heart disease in such patients accounts for 50% incidence[12]

The important and interesting part of this case is the presence of unusual associations with typical Goldenhar Syndrome. First, here is a bilateral invol­vement, seen in only 5-8% of Goldenhar syndrome, as compared to high incidence of unilateral involve­ment [3]. Presence of lid coloboma on the left side proves the bilaterality of the disorder. Second, the association of congenital heart disease as Tetrology of Fallot, existing in this child, is again not a routine finding.

Last but the most important finding of Grade I Duane retraction syndrome and involvement of right superior rectus and right interior oblique (double elevator palsy) along with Goldenhar syndrome makes it a unique case being reported. However Duane retrac­tion syndrome existing with Goldenhar syndrome has been reported earlier [1],[2],[4],[7],[8],[9][10]

The pathological basis of ocular motility disorders with Goldenhar syndrome remains unknown. But the aplasia of abducens nerve and nucleus has been studied [6]

The exact pathogenesis of Goldenhar syndrome is not known as yet. Chromosomal studies done in such cases are always normal. Nevertheless it is not a familiar disease either and even as the exact mode of its transmission remains unknown the authors advocate [3] the autosomal dominant pattern of inheritance or Genetic mutation.

  Summary Top

It is a single and the very first report of the kind from India. Our case, a young male child holds the very rare association of Grade I Duane Retraction syndrome and double elevator palsy with Goldenhar syndrome.

The bilateral involvement of the disease complex over and above the presence of congenital heart disease as Fallots of Tetrology reestablishes this case under common presentation.

  References Top

Mansour, A M. Wang. F. Henkind of al.. Ocular Findings in Goldenhar Syndrome. Dept. of Opthalmology. Montefiore Medical Centre Bronx, UY USA. AMJ 1985 100;4 (555-559)­  Back to cited text no. 1
Miller, M T : Association of Duane Retraction Syndrome with craniofacial anomalies. DeptL of Ophthal.. University of Illinois College of Medicine. Eye and Ear Infirmary, Chicago. USA. Journal Craniofacial Genet. Dev. Biol. 1985 5'Suppl (273-282).  Back to cited text no. 2
Harley: Paediatric Ophthalmology, Vol II, Saunders Company. 1983 (1041-1043.1243)­  Back to cited text no. 3
Miller, N R, Kiel. S M, Green, W R, and Clark, A W : Unilateral Duane retraction syndrome (Type 1). Arch. Ophthal. 100:1468. 1982.  Back to cited text no. 4
Walsh, F B, and Hayt. W F : Clinical Neuro Ophthalmology, Baltimore, Williams and Wikins Company, Vol. I, pp. 203-266.  Back to cited text no. 5
Aleksic. S, Budzilovich et al. ' Congenital Ophthalmoplegia in auriculo vertebral dysphasia - a clinico-pathologic study and review of literature, Neurology 1976 26:638.  Back to cited text no. 6
Bowen. D L, Collum. L M T and Roes. D 0 : Clinical Aspects of Goldenhar Syndrome, AMJ 76:250-257. 1973.  Back to cited text no. 7
Baum, J, and Feingold. M : Ocular Aspects of Goldenhar Syndrome, AMJ 75:250-257. 1971  Back to cited text no. 8
Mittelman. D. Herbst, R. and Miller, M : The many faces of Goldenhar Syndrome, Read before the annual meeting of American Medical Association, New York. June 1973.  Back to cited text no. 9
Velez. G Duane retraction syndrome associated with Goldenhar syndrome. AMJ 72945, 1970.  Back to cited text no. 10
Feingold, M, and Gabis. S : Ocular abnormality associated with 1st and lied arch syndrome : Survey Ophthal.. 14:30, 1968.  Back to cited text no. 11
Corey, J C : Malformations and Syndromes involving craniofacies, Paediatrics (Editor - Rudolph. Abraham M), Appleton-century-crafts. Connecticut, USA, 1982:389.  Back to cited text no. 12


  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5]

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