|Year : 1999 | Volume
| Issue : 2 | Page : 131-133
Atypical case of oculo-facio-auriculo-vertebral dysplasia (goldenhar-gorlin syndrome)
Amitava Das, Suchitra Majumdar, Soumya Swarup Chatterjee
Department of Ophthalmology, Institute of Post-Graduate Medical Education and Research, Calcutta, India
CF 68, Sector -I, Salt Lake, Calcutta - 700 064
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Das A, Majumdar S, Chatterjee SS. Atypical case of oculo-facio-auriculo-vertebral dysplasia (goldenhar-gorlin syndrome). Indian J Ophthalmol 1999;47:131-3
This report describes a rare bilateral ocular involvement in a patient with Goldenhar-Gorlin syndrome, a developmental disorder that is often accompanied by various malformations in multiple organ systems.
The Goldenhar-Gorlin syndrome is now considered a multifocal developmental field defect arising during abnormal blastogenesis. The main characteristics of this syndrome are ocular, facial, auricular and vertebral (OFAV) anomalies. The association with caudal regression syndrome and the combination of malformation localized in both the cranial and caudal region support the idea that OFAV spectrum is a manifestation of the axial mesodermal dysplasia complex.
The syndrome presents at birth, and its occurrence varies so much that actual modes of inheritance are only rarely documented. However evidence of autosomal recessive inheritance has been reported.
Various abnormalities are observed along with those classical descriptions. Recently other malformations in multiple organ systems have been presented in combination with OFAV complex. The present case is another atypical variety of this syndrome.
| Case Report|| |
A 16-year-old female presented with swelling and dimness of vision in both eyes and facial deformity since birth. Her intelligence was normal but physical development was retarded. She was born to a multiparous otherwise healthy mother at full term, though her mother was on oral contraceptives since her last childbirth 2 years before. Her parents were non-consanguinous and belonged to the lower socio-economic bracket; no other family members had such a deformity or gross defect in eye sight.
On examination, the patient had right-sided hemifacial microsomia with malar hypoplasia, micrognathia, and apparent macrostomia [Figure - 1]. The tongue was underdeveloped, and palate high arched, but dentition was normal. Accessory pre-auricular appendages, two on the right and one on the left side, were noticed in front of the tragus. Ears were well formed with normal auditory functions. One blind sinus was present on the right side of the nose. A probe passed ended blindly after about 1 cm, pointing towards the right medial canthus. There was a history of watery discharge through that opening in childhood. The sinus represented the distal remnant of an obliterated congenital naso-lacrimal fistula. Syringing revealed normal patency of both naso-lacrimal passages with no leakage.
Ocular examination revealed limbal dermoids with dermolipoma in both eyes [Figure - 1]. A single dermoid at the inferotemporal quadrant of the limbus continuous with a big lipodermoid was found in the right eye. The left eye had two dermoids of different sizes blending with the lipodermoids. Correctopia with pupillary displacement to the upper and temporal part and unelicitable pupillary reaction was noted in the left eye. The lens, fundii, intraocular pressure and ocular motility were within normal limits. Her best corrected vision was 6/18 in the right eye and hand movement in the left eye.
Musculo-skeletal deformity was observed in the cervico-dorsal and dorsi-lumbar regions; no other systemic abnormalities were detected.
Face radiography revealed right-sided hypoplastic antrum, short and broad zygomatic arch and mandibular hypoplasia [Figure - 2]a. The dorsal spine showed the C7 & Dl hemivertebra fused with a rudimentary cervical rib on the right side. Butterfly hemivertebra of D14 (probably L2) was found fused with D13. Acute kyphosis was noted in the dorsi-lumbar region and mild scoliosis was seen in the cervico-dorsal region with convexity to the right side. The D13 vertebra had bilateral extra ribs and D14 showed another extra rib on the right side [Figure:2b].
Axial Computer-aided tomography (CT) scan of the brain revealed a small hypodense (- 36.7 Hz) lesion of lipoma at the posterior part of the interhemispheric fissure [Figure - 3].
The patient was referred to the cornea clinic for lamellar keratoplasty, but did not turn up.
| Discussion|| |
Mandibulofacial dysostoses are skeletal malformations of the anterior segment of the head and are grouped together according to their common embryopathic derivation from the first and second branchial arches. Of the three definite varieties of Mandibulo-facial dysostoses, the one named for Goldenhar was originally described by a triad of congenital abnormalities consisting of epibulbar dermoid or lipodermoids, preauricular appendages and pretragal fistulas. After Gorlin (1963), the Goldenhar complex and hemifacial microsomia are considered variants of a singled isomorphogenetic entity.
Hemifacial microsomia is a unilateral abnormality with microtia, flattening of the face and apparent macrostomia. The ear anomalies vary from anotia to a distorted pinna with accessory preauricular tags. The flattening of the face is due to underdeveloped mandible, maxilla, and malar bone, which are associated with hypoplastic muscles for mastication and facial expression. The microsomia may also be associated with high-arch palate and dental malocclusion.
The epibulbar limbal dermoid of Goldenhar syndrome is usually unilateral and straddles the limbus in the inferotemporal quadrant. However a few sporadic bilateral cases are found, and with rare exceptions a single dermoid is present in each eye. Although the rest of the cornea appears normal, a varying degree of irregular astigmatism depending upon the size and number of limbal dermoids may involve the optical zone. The grossly reduced vision in the left eye of the present case was due to the anisoastigmatic amblyopia. Lipodermoids are commonly located in the superotemporal epibulbar region and are generally bilateral. The larger one approaches the limbus and may blend with the adjoining dermoid. Interhemispheric lipoma have been observed in a few cases of median-cleft face children with concurrent Goldenhar syndrome. The other less-common ocular affections include such defects in the lacrimal drainage system as stenosed canaliculi with or without dacryocystitis, and iris abnormalities such as coloboma iris and elliptical pupil.
A number of other anomalies, particularly those of vertebral column and ribs are reported along with this syndrome. Vertebral and rib abnormalities include hemivertebra, cunieform vertebra, spina bifida, scoliosis, synostoses and hypoplastic or fused ribs.
The type of physical abnormalities found in the Goldenhar-Gorlin syndrome suggest damage to the neural structures during the second or late stages of the first trimester. This is when the branchial arches appear and differentiate into the various gross structures. Some insults at this stage may lead to anomalies including the malformation of the branchial arches. The teratogenic effect of Vitamin A during the second month of gestation has been observed. The use of contraceptives during the first trimester of pregnancy may have some role in this defect.
The rare features of this present case were the bilateral ocular involvement with single and double epibulbar dermoids; extensive lipodermoids; correctopic iris in one eye; and inter-hemispheric lipoma. The unique features were the association of an obliterated congenital nasolacrimal fistula and extra ribs which, to the best of our knowledge, has not been reported so far.
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[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]