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| ARTICLES |
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| Year : 1985 | Volume
: 33
| Issue : 3 | Page : 187-189 |
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Godenhar's syndrome with unilateral duane retraction syndrome and "butterfly" vertebra
YK Dastur, H Trivedi, N Tapaswi, N Shah
Department of Ophthalmology, K. E M. Hospital, Mumbai, India
Correspondence Address:
Y K Dastur
Department of Ophthalmology, K. E M. Hospital, Mumbai
India
 Source of Support: None, Conflict of Interest: None  | Check |
PMID: 3841867 
How to cite this article:
Dastur Y K, Trivedi H, Tapaswi N, Shah N. Godenhar's syndrome with unilateral duane retraction syndrome and "butterfly" vertebra. Indian J Ophthalmol 1985;33:187-9 |
Mandibulofacial Dysostosis is a rare congenital anomaly of genetic origin due to retarded differentiation of first and second Branchial Arches and consists of four known syndromes-Treacher Collins (Franceschetti), Goldenhar's, Pierre Robins, and Hallermann-Strieff. The first Branchial Arch consists of two divisions-the first division develops into maxilla, lateral portion of lip and cheek and anterior aspect of the ear. The second division of the first Branchial Arch develops into lower part of face, mandible, lower lip, part of middle ear. The Second Branchial Arch forms the external ear and auricle. Goldenhar's syndrome is due to defective development of the first and second Branchial Arches.
The following case is reported as in addition to features of Goldenhar's Syndrome it is associated with a rare anomaly like left sided Duane's Retraction Syndrome-Type II and an unusual skeletal anomalies like a solitary `Butterfly' lumbar vertebra and bilaterally symmetrical hypoplasia of mandible.
| Case report | |  |
A thirteen year old male patient presented with complaints of left sided swelling of bulbar conjunctiva since birth. The swelling had increased in size for a few years. The mass was painless. There was no significant family history. In the past the patient had undergone plastic surgery for left external ear anomaly. The patient was born of a non consanguinous marriage.
On examination, the facial appearance was characterised by a receding chin due to a small mandible, along with a projection of hairline on cheek [Figure - 1]. Vision was 6/6 in both the eyes without glasses. Extra ocular movements of left eye showed restriction abduction and normal left sided adduction. In addition, there was narrowing of left palpebral fissure on adduction and widening of left palpebral fissure on abduction. Patient had normal binocular vision in primary position on examination with Worths Four Dot Test. There was no diplopia on Levo-version. The left lower temporal aspect of bulbar conjunctiva showed a 5 mm x 7 mm diffuse firm mass, nonreducible, with hairs on the surface of the mass. The posterior edge of the mass was not visible or felt suggesting that the mass was extending posteriorly beyond the left lateral canthus. The bulbar conjunctiva was closely adherent to the mass anteriorly near the limbus. On partial excision of the hairy mass grossly it was found to resemble a fibro-fatty tumour free from the left lateral rectus, which appeared fleshy and normal. The mass extended quite extensively posteriorly where it was continuous with orbital fat. Histological examination of the mass confirmed the diagnosis a sub conjunctival Dermolipoma. The fundi of both eyes were normal and so was the intraocular tension. There were no associate anomalies of the lids, lips, oral cavity. The patient was mentally intelligent and had no deafness. General systemic examination was normal. Blood count, stool, urine examination were normal. X-ray skull showed mandibular hypoplasia. X-ray lumbar spine showed at the level of second lumbar vertebra an anomaly of the vertebral body-characterised by the two halves of the body seperated by a vertical hiatus due to failure of fusion of the two primary centres of ossification for the vertebral body-known as 'Butterfly' vertebra [Figure - 2].
| Discussion | | |
Goldenhar's syndrome is characterized by a clinical triad[1],[2] of unilateral sub conjunctival dermolipoma or limbal Dermoid, unilateral accessory auricular appendages and vertebral anomalies like hemivertebra. The case under study has shown features of Goldenhar's syndrome and a left sided Duane's Retraction Syndrome Type II.[3],[4] charaterised by restriction of abduction with normal range of adduction. Harley[2], Darling et al[5], Sugar[6] have reported unilateral hypoplasia of mandible on side of ear anomaly, also frequently associated with skull assymetry. However, the case reported showed a generalised (bilaterally symmetrical) hypoplasia of mandible and no skull assymetry. Vertebral anomaly usually associated with Goldenhar's syndrome is hemivertebra[2]. However, our case is the only documented case report showing the presence of a solitary `butterfly' lumbar vertebral anomaly associated with Goldenhar's syndrome. The hemivertebra is due to development of only one ossification centre for the vertebral body but in `butterfly' vertebra there is a failure of fusion of the two primary centres of ossification for the vertebral body, resulting in the two halves of the body of the vertebra being separated by a vertical hiatus on radiological examination.
| Summary | | |
A case of Goldenhar's Syndrome has been reported. In addition to the characteristic features. we have noted rare associated anomalies like Left sided Duane's Retraction Syndrome (Type 11) along with certain unusual skeletal anomalies such as a bilaterally symmetrical hypoplasia of the mendible and a solitary `BUTTERFLY' lumbar vertebral anomaly.
| Acknowledgements | | |
We express our gratitude to the Dean, Seth G.S. Medical College. and K.E.M. Hospital, Bombay, for permission to publish this material.
| References | | |
| 1. | Duke Elder's, 1964, System of Ophthalmology Vol. 111, Part 11, p 1021.  |
| 2. | Robinson, D. and Harley, M.D., 1975, Pediatric Ophthalmology, p, 891-2, |
| 3. | Duke Elder, S., 1979, System of Ophthalmology, Vol. VI, p 740. |
| 4. | Velez, G., 1970, Amer. J. Ophthalmol 70 945. |
| 5. | Darling, D.B. Feingold, M., and Barkmann, M.D., 1968, Radiology, 91 :254. |
| 6. | Sugar, H.S., 1966, Amer, J. Ophthalmol 62: 678. |
[Figure - 1], [Figure - 2]
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