|Year : 2021 | Volume
| Issue : 1 | Page : 24-25
Facial dysmorphism – More than what meets the eyes
Aditi Mehta1, Simar R Singh1, Ramandeep S Virk2
1 Department of Ophthalmology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
2 Department of Otolaryngology, Post Graduate Institute of Medical Education and Research, Chandigarh, India
|Date of Submission||09-Apr-2020|
|Date of Acceptance||14-Jul-2020|
|Date of Web Publication||31-Dec-2020|
Prof. Ramandeep S Virk
Department of Otolaryngology and Head and Neck Surgery, Postgraduate Institute of Medical Education and Research, Sector 12, Chandigarh - 160 012
Source of Support: None, Conflict of Interest: None
Keywords: Frontonasal dysplasia, morning glory optic disk, tessier cleft
|How to cite this article:|
Mehta A, Singh SR, Virk RS. Facial dysmorphism – More than what meets the eyes. Indian J Ophthalmol Case Rep 2021;1:24-5
A 10-year-old patient presented for evaluation of facial dysmorphism and vision assessment. His best corrected visual acuity was 6/6 OU, and he was noted to have hypertelorism (canthal index = 43) [Figure 1]a. Visual field assessment was not possible as the child was uncooperative. A scar was noted along philtrum [Figure 1]b. Magnetic resonance imaging demonstrated defect in anterior cranial fossa, sphenoidal encephalocele, and herniation of optic tracts [Figure 1]c. Ocular movements were normal with no strabismus. The left eye had an excavated, funnel-shaped optic nerve head suggestive of morning glory disk anomaly [MGDA; [Figure 1]d. There was past history of surgery of cleft lip and palate 6 years prior, and one episode of bilateral otitis media managed medically. There was no history of cerebrospinal fluid rhinorrhea or nasal obstruction. Antenatal and birth history was unremarkable. Systemic evaluation, including developmental milestones, was normal for age.
|Figure 1: (a): External photograph demonstrating hypertelorism. Outer canthal distance (OCD) 100 mm, inner canthal distance (ICD) 43 mm, interpupillary distance: 69 mm, palpebral fissure length: OD: 29 mm, OS: 28 mm, canthal index (ICD × 100/OCD)=43; (b): Surgical scar on philtrum (red arrow); (c): Magnetic resonance imaging showing a midline defect with meningoencephalocele reaching up to nasopharynx (yellow arrow); (d): Fundus photography with a smartphone camera, and 20D lens showing peri-optic nerve head 360° excavation and pigmentation consistent with morning glory optic disk anomaly|
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The clinic-radiological spectrum was consistent with Tessier type 0,14 cleft and MGDA., This association has a common embryological basis as described in literature. Cleft palate occurs due to failure of fusion of nasal septum (midline) with the two palatine processes at 6–9 weeks of gestation (Tessier 0). This corresponds to initiation of ganglion cell layer of retina and optic nerve development at 7 weeks. The presence of a midline encephalocele (Tessier 14) leads to hypertelorism, which prevents fusion of palates, influencing optic nerve formation.,
Being asymptomatic, he was managed conservatively. His systemic and ocular status was stable at 1 year.
| Discussion|| |
Patients with facial dysmorphism often present to pediatric surgery clinics. A detailed ophthalmological consultation and subsequent follow-up is paramount in detecting pseudostrabismus, ocular anomalies, and potential visual complications. Conversely, the developmentally abnormal eye may serve as a window to associated facial and systemic defects with an underlying common embryology. A multidisciplinary approach is ideal for functional and cosmetic rehabilitation.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Tessier P. Anatomical classification facial, cranio-facial and latero-facial clefts. J Maxillofac Surg 1976;4:69-92.
Winters R. Tessier clefts and hypertelorism. Facial Plast Surg Clin North Am 2016;24:545-58.
Leitch RJ, Winter RM. Midline craniofacial defects and morning glory disc anomaly. A distinct clinical entity. Acta Ophthalmol Scand Suppl 2009;74:16-9.
Itakura T, Miyamoto K, Uematsu Y, Hayashi S, Komai N. Bilateral morning glory syndrome associated with sphenoid encephalocele. J Neurosurg 1992;77:949-51.