|Year : 1990 | Volume
| Issue : 4 | Page : 198-199
Facial cleft syndrome-A case report
SM Betharia, Sushil Kumar
Dr. R.P. Centre for Ophthalmic Science, A.I.I.M.S., New Delhi-110 029, India
S M Betharia
Dr. R.P. Centre for Ophthalmic Science, A.I.I.M.S., New Delhi-110 029
Source of Support: None, Conflict of Interest: None
A rare case of facio-orbital anamoly having dermolipoma with posterior extension, lid notch, ectropion, assymetric hypertelorism and lipoma of corpus callosum is presented. The classification of the facial cleft deformities and the surgical management is highlighted.
|How to cite this article:|
Betharia S M, Kumar S. Facial cleft syndrome-A case report. Indian J Ophthalmol 1990;38:198-9
| Introduction|| |
The craniofacial anamolies include the multiple defects in the soft tissue and bony structures due to developmental defects in the embryonic period from 4th to 8th week of gestation. Various authors have described the classification, the components of these craniofacial syndrome with their management. We are reporting a rare case of facial cleft syndrome with its management by multidisciplinary approach.
| Case report|| |
A 22 year old female presented with the complaints of fleshy growth adjacent to the black portion of the right eye ball with poor vision and watering since birth. There was history of 3 surgical interventions for broad bridge of the nose, bifid right nostril and hypertelorism. General physical examination was within normal limits. The examination of the face revealed right sided facial hemiatrophy, orbital hypertelorism and multiple scar marks on forehead, bridge of the nose extending down to the side of right nostril [Figure - 1].
Ocular examination revealed visual acuity of perception of light with accurate projection in the right eye and 6/6 in the left eye. The left eye was essentially within normal limits. Right eye also showed divergent squint with right hypertropia and restricted ocular movements in the dextropositions of gaze. There was a coloboma present at the junction of the medial 1/3 and lateral 2/3 of the right upper lid with a nodular, firm swelling of about 3 mm above this coloboma. The swelling was well circumscribed, 9 mm in diameter with smooth surface and a few hairs projecting from its skin surface. The outer 2/3rd of the right lower lid showed ectropion with nonapposition of the right lower punctum to the globe. The important measurements revealed the intermedial canthal distance to be 45 mm and interpupillary distance of 73 mm. The distance between the midline of face and the medial canthus on the right side was 30 mm as against 15 mm on the left side. There was the presence of a dermolipoma on the temporal side of the conjuctiva of the right eye occupying the whole width of the palpebral aperture with posterior extension into the orbit. This growth was encroaching onto the cornea by 3 mm.
The surface of the dermolipoma was smooth, pink in colour with a few lanugo hairs. On echography the posterior extension was found to be extending towards the orbital apex and occupying most of the temporal half of the orbit in the peripheral space. The axial length measurements were 22.18 mm in the right eye and 22.26 mm in the left eye. There was a presence of anterior polar cataract in the right eye.
Investigations : Routine haemogram and urine examination, were normal. Right orbital skiagram revealed enlarged size, deformed supero-nasal wall, hazy right ethmoidal gallery and sclerosis of the frontal bone. X-ray skull showed orbital hypertelorism and calcified falx cerebri. C.T. Scan confirmed the findings of hypertelorism and showed the fat-lucency laterally due to dermolipoma in the right orbit and the presence of lipoma in the corpus callosum area.
| DISCUSSION & SURGICAL MANAGEMENT|| |
Craniofacial deformities as such are rarely encountered. However, with the improved understanding of these deformities and new concepts in their management, there has been much interest created amongst the ophthalmologists and the faciomaxillary surgeons.  As regards the classification of these disorders the classification given by Tessier et al is the one widely accepted. The orbits form a transition zone between the cranium and the face whereas the overlying soft tissue distortions provide a valuable clue to the underlying skeletal deformities. Tessier  has given a clock face classification of craniofacial clefts numbering from 0 to 14. The clefts no. 0 to 4 are associated with the nasolacrimal system abnormalities. The clefts no. 5 to 8 usually cause the lateral lower lid deformities. In cleft no.9 outer 1/3 of the upper lid is involved. From cleft 10 to 14 there is involvement of the soft tissues of the upper lid and the bony deformities in the form of hypertelorism.
In our case, there is involvement of the cleft no. 6, 8, 10, 11 and 12 in the form of presence of a typical hypertelorism, dermolipoma, coloboma of the upper lid, pseudocoloboma like picture (ectropion) in the lateral 1/3 of the lower lid and also the bifid ala of the nose. In addition to this, our patient has lipoma of the corpus callosum as detected on the C.T. Scan.
The faciomaxillary surgeon performed the osteotomy to reduce the hypertelorism whereas the E.V.T. surgeon corrected bifid ala of the nose. The lid uuloboma was corrected, after excision of the dermolipoma, as far as possible [Figure - 2][Figure - 3]. Although restoration of complete cosmesis is the aim, it is not possible in such cases. However the multidisciplinary approach to the problem is always helpful.
| References|| |
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[Figure - 1], [Figure - 2], [Figure - 3]