|Year : 1979 | Volume
| Issue : 2 | Page : 65-66
Oculo auriculo vertebral dysplasia
A Hussain1, N Dutta2
1 Medical College, Gauhati, India
2 Department E.N.T. Medical College, Gauhati, India
Department of Ophthalmology, Medical College, Gauhati
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Hussain A, Dutta N. Oculo auriculo vertebral dysplasia. Indian J Ophthalmol 1979;27:65-6
Ocular abnormalities associated with first and second arch maldevelopment consist of four known syndromes, viz: Treacher Collins, Goldenhar's, Pierre-Robins and HallermannStrieff. The branchial arches become evident on the 4th. week of gestation. Of the two divisions of first arch, mandibular and maxillary, the former develops into mandible, lower lip and chin, the malleus, incus of the ear and sphenomandibular ligament, whereas the latter arch gives rise to maxilla, zygoma, lateral portion of upper lip and cheek, interior portion of helix and tragus of ear. The mandibular division of 5th nerve and muscles of mastication develop from the first arch. A portion of the first groove or cleft lying between the first and second arch remains as part of tympanic membrane, external auditory canal and eustachian tube. The second branchial arch forms the antitragus, anthetix, the posterior portion of helix, the lobe of the ear, a portion of stapes, facial nerve and muscles of facial expression, stapedius, stylohyoid, posterior belly of diagastric, styloglossus and platoglossus muscles. The oculo-auriculo dysplasia occurs due to defective development of first and second arches.
The syndrome being rare, the following case with abnormal lacrimal system and facial nerve paralysis in the affected side is being reported.
| Case Report|| |
A male baby, 2½ months old, was admitted in the eye department of Medical College, Gauhati on 20.12.77. The child 4th in the family was brought with complaints of absence of left pinna and left facial weakness with inability to close the eye. [Figure - 1]. During pregnancy there was no history of measles, mumps or German measles nor taking of any autotoxic drugs by the mother. She had only little pain in both legs. The delivery of the child was normal. There was polydactily on left hand with two fingers attached together in the left thumb. There was apparently no defect in hearing. On examination of ear the pinna is absent. There are two accessory auricles at a distance of 1 cm. with total meatal atresia. There is no preauricular sinus. Left facial nerve paralysis is present with absence of wrinkling on forehead indicating a lower motor nerve lesion [Figure - 2]. Head-turning reflex is present.
Examination of eyes shows weakness of left orbicularis oculi and examination of eyes under general anaesthesia do not reveal any abnormalities except blocked lacrimal canaliculi on left side A Bowman's lacrimal probe could not be passed. Fundii are normal.
X ray of skull and chest shows spina bifida from 1st to 3rd dorsal vertebra, anterior ends of the rib are wide and there is fusion of 3rd and 4th ribs anteriorly on the left side. There is also hemivertebra on 6th thoracic region. Lateral oblique view of both mastoids region shows an abnormality. Heart and lungs are normal, E.C.G. normal. No abnormality in the lips, oral cavity or lids is seen. The child looks bright without mental retardation. The parents were explained about the abnormality and reassured about the child's health.
| Discussions|| |
Goldenhar described this congenital abnormality consisting epibulbar dermoids, accessory auricular appendages and aural fistula. Along with this classical description, various other wide spread abnormalities have been observed,, Darling et a1 and Sugar have reported cases of Goldenhar's Syndrome and noted the main clinical features which include epibulbar dermoid or lipodermoids, coloboma of upper eye lid, abnormality of one ear either by its shape or position, pre-auricular fleshy appendages and hypoplasia of the mandible on the same side of abnormal ear. The ear may have stenosis or atresia of external auditory meatus. Pre-auricular fleshy appendages are usually multiple, pedunculated and located anterior to tragus of deformed ear. Eye abnormalities consist of bilateral epibulbar dermoids located at limbus or corneal margin of lower outer corner of the eye. Coloboma of the upper eye lid and strabismus can also occur.
| Summary|| |
A case of oculo-auriculo vertebral dysplasia (Goldenhar's syndrome) has been reported wherein besides other components of the syndrome, facial nerve paralysis and defect in lacrimal drainage system have been observed.
| References|| |
Barkman, M.D. and Feingold M., 1968, Oral Surgery, 25,
Darling D.B. Feingold, M. and Barkman, M.D. 1968. Radiology, 91, 254.
. Duke Elder, 1964, System of Ophthalmology,
Vol. III, Part 2, P 1021, Henry Kimpton, London.
Nema, H.V. 1973, Ophthalmic Syndrome, 104,
Sugar, H.S. 1966, Amer J. Oph. 62,
[Figure - 1], [Figure - 2]