Azeez MA1 , Wanninayake WMDAS2, Basnayake AS3, Gunasekera R4, Yasawardene S5, Jayathilake M6, Nilini
DDC7, Deepthi de Silva8
- Senior Registrar in Orthodontics, Lady Ridgeway Hospital for Children, Colombo
- Demonstrator, Department of Physiology, Faculty of Medicine, University of Kelaniya
- Consultant Orthodontist, Lady Ridgeway Hospital for Children, Colombo
- Consultant Plastic Surgeon, Lady Ridgeway Hospital for Children, Colombo
- Consultant ENT Surgeon, Lady Ridgeway Hospital for Children, Colombo
- Speech and Language Therapist, Lady Ridgeway Hospital for Children, Colombo
- Research Assistant
- Professor in Medical Genetics, Department of Physiology, Faculty of Medicine, University of Kelaniya
Introduction
The Oculo- Auricular-Vertebral (OAV) spectrum is a well-recognized but rare congenital malformation syndrome associated abnormalities involving the first and second branchial arches. It has a reported prevalence is between 1 in 3500 to 1 in 5600 live births although its prevalence in Sri Lanka is not known. The asymmetric involvement of the eye (especially causing epibulbar dermoids), variable ear malformations (varying from microtia and anotia to minor malformations and preauricular tags) and vertebral involvement (varying from bifid and hemivertebrae to major spinal anomalies associated with scoliosis) are its cardinal features. Many affected cases also demonstrate hemifacial microsomia, macrostomia, cleft lip and or palate, cranial nerve palsies (especially the VIIth nerves) and maxillary and mandibular hypoplasia. Other anomalies that have been identified frequently include congenital cardiac malformations, renal structural anomalies and limb malformations. There is a reported male predilection of 3:2 reported in the literature.
The OAV spectrum encompasses the spectrum of hemifacial microsomia, microtia +/- skin tags and the Goldenhar syndrome(GS) (Fig 1). The GS which was first described in 1845 by Carl Ferdinand Von Arlt, although Maurice Goldenhar was given the credit for describing various characteristic features in 1952 and Robert Gorlin coined the term OAV Spectrum in 1963.
(Fig 1) Features of OVA
The aetiology is of OAV is unknown with both environment and genetic factors being implicated. The majority of Goldenhar syndrome cases are sporadic but some reports suggest variable autosomal dominant inheritance and the report of association with consanguineous marriage also suggests the possibility of autosomal recessive inheritance. Teratogenic factors associated with OAV include maternal diabetes and maternal infections (rubella and influenza).
This paper endeavors to describe the intra oral features of OAV patients referred to Lady Ridgeway Hospital and briefly review the literature associated with OAV spectrum
Methodology
A group of OAV cases (n=40) referred to a clinical geneticist between January 2009 and June 2017 were identified and invited to attend for a review appointment. Of these fourteen (n=14) patients attended the review appointment. They were examined both for extra oral and intra oral features. Intra oral features included soft and hard tissue analysis. The examination was performed by an orthodontist.
Results
There were six males (43%) and eight females with an age range of 7 months to 14 years. 0 patients were identified as having OAV spectrum during this period of which 14 responded to the recall visit. The age range among these 14 patients were and comprised of 6 males and 8 females.
Extra oral examination (Table 1)
Eleven patients (78%) demonstrated varying degrees of facial asymmetry with nine cases (64%) having predominantly right sided hemifacial microsomia and the remainder being left sided. Nine cases (64%) had a convex soft tissue profile, 5 (35%) had a flat profile while none had a concave facial profile. Five cases (35%) showed malar flattening including one patient having bilateral malar flattening.
One cases had a repaired cleft lip and palate. Macrostomia was noted in 7 patients (50%). Only one patient complained of temporo-mandibular joint pain while 11 patients (78%) had no TMJ symptoms. Two cases were too young to elicit any disorder. Mandibular path of closure was normal in 3 patients (21%) while 1 (7%) had displacement and 9 (64%) showed a degree of deflection to the defective side.
On assessment of skeletal relationships, 7 (50%) were class I , 5 (35%) were class II and 2 (14%) were class III. Ten patients (71%) had a significant reduction of ramus height on the affected side and one (7%) had bilateral shortening of the ramus which led to a severe class II malocclusion.
Vertical assessment revealed that 10 (71%) had an average FMPA value while 3 were (21%) high angle, whereas 1 (7%) patient was a low angle case.
Three cases (21%) had incompetent lips on lip competency evaluation.
Intra oral examination (Table 2)
Nine patients (64%) had a normal sized tongue with macroglossia seen in 2 patients (14%), a small tongue in 2 (14%) cases and a hyperactive tongue in one case. None of the patients demonstrated any restriction of tongue movements.
Hard tissue analysis revealed that 6 patients were in their deciduous dentition and 8 were in mixed dentition. Three children (21%) were identified as having delayed tooth eruption when compared with norms for chronology of tooth eruption.
Maxillary canting was assessed and 5 patients (35%) showed positive discrepancy for canting of the maxillary dentition.
When analysis for malocclusion was performed, 6 (42%) had a Class I type of malocclusion, 3 (21%) a Class II division 1 malocclusion and 2 patients (14%) showed a Class III trait. None demonstrated traits of a Class II division 2 type of malocclusion.
Among other features were anterior crossbites in 3 (21%), 2 (14%) showed posterior crossbites, three had an increased overjet (21%) and 2 (14%) had reduced overjet while 5 were normal (35%). A proper overjet measurement was unable to be taken in 4 patients owing to exfoliation of deciduous or unerupted permanent central incisors.
The overbite was also evaluated and 2 had an anterior open bite, 2 had reduced overbite, 2 (14%) showed deep bite and 5 (35%) had a normal overbite. In 3 patients it was not possible to assess the degree of the overbite. One patient had supernumerary teeth, 1 had a double tooth and 1 had hypodontia.
Speech assessment demonstrated that 10 patients (71%) had normal speech, 2 (14%) cases had nasality while 2 were too young to be assessed.
Breathing patterns analysis revealed only one case to be a mouth breather. All 14 patients showed satisfactory periodontal condition while caries assessment showed 8 patients (57%) who had some degree of caries and restorations.
Table 1 – Extra Oral Examination
| Patient Number | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | |
| Male/Female | F | F | F | F | F | M | M | M | M | M | F | M | F | F |
| Age (Years) | 7 | 6 | 10 | 7 | 14 | 4 | 2 | 4 | 12-Jul | 7 | 9 | 5 | 1 | 4 |
| Facial Asymmetry | -- | + | + | + | + | -- | + | + | + | + | + | + | + | -- |
| Profile | Flat | Flat | Flat | Convex | Convex | Convex | Convex | Convex | Convex | Convex | Convex | Convex | Flat | Flat |
| Malar flattening | -- | + | + | + | -- | -- | -- | + | -- | -- | + | -- | -- | -- |
| Macrostomia | -- | -- | -- | -- | + | + | + | -- | -- | -- | + | + | -- | + |
| Microstomia | -- | -- | -- | -- | -- | -- | -- | -- | -- | + | -- | -- | -- | -- |
| TMJ Symptoms | -- | -- | -- | + | -- | -- | -- | -- | NE | -- | -- | -- | NE | -- |
| Abnormal Mandibular Closure | -- | + | + | + | + | -- | + | + | NE | + | + | + | + | -- |
| Abnormal Ramus Height | -- | + | + | + | + | + | + | + | NE | -- | + | + | -- | -- |
| Skeletal Relationship (Class) | I | III | III | I | I | II | I | I | II | I | II | II | I | II |
| FMPA | Avg | High | High | Avg | Avg | High | Avg | Avg | Avg | Avg | Avg | Avg | Avg | Low |
| Lip Incompetency | -- | -- | -- | -- | -- | + | -- | -- | NE | + | -- | + | NE | -- |
| Speech Nasality | -- | + | -- | -- | -- | -- | -- | -- | NE | + | -- | -- | NE | -- |
| Mouth Breathing | -- | -- | -- | -- | -- | -- | -- | -- | + | -- | -- | -- | NE | -- |
Table 2 – Intra Oral Examination
| Patient Number | ||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | |
| Cleft Lip and Palate | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | + | -- | -- | -- |
| Macroglossia | -- | -- | -- | -- | + | -- | -- | -- | -- | -- | + | -- | NE | -- |
| Microglossia | -- | + | -- | -- | -- | -- | -- | -- | -- | -- | -- | + | NE | -- |
| Abnormal Tongue Movements | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | + | NE | -- |
| Teeth Abnormalities | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | + | + | -- | -- |
| Carious Teeth | + | + | + | + | -- | -- | + | -- | -- | + | + | -- | -- | -- |
| Good Periodontal Health | + | + | + | + | + | + | + | + | + | + | + | + | + | + |
| Anterior Crossbite | -- | -- | + | + | + | -- | -- | -- | -- | -- | + | -- | -- | -- |
| Posterior Crossbite | -- | -- | + | -- | -- | + | -- | -- | -- | -- | -- | -- | -- | -- |
| Anterior Openbite/ Reduced Overbite | -- | + | -- | -- | + | + | -- | -- | -- | -- | -- | -- | + | -- |
| Deep Overbite | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | + | + | -- | -- |
| Increased Overjet | -- | -- | -- | -- | -- | -- | -- | -- | -- | -- | + | + | -- | -- |
| Decreased Overjet | -- | + | -- | -- | + | -- | -- | -- | -- | + | -- | -- | -- | -- |
| Midline Deviations | -- | + | + | + | + | -- | -- | -- | -- | + | -- | + | -- | -- |
| Maxillary Canting | -- | + | + | -- | + | -- | -- | + | -- | -- | + | + | -- | -- |
Discussion
Although the external manifestations of the OAV spectrum are evident at birth and lead to the diagnosis of this condition, the intraoral manifestation becomes more evident with growth of the child. The oral manifestations are a reflection of the reduced growth especially in the upper and lower jaws which lead to malocclusions as was observed in this small series of cases. The other problem that can be caused by this is breathing difficulty but this was not commonly observed in these cases.
Most of our patients demonstrated facial asymmetry and maxillary and mandibular as per the literature. Khawaja et al (2016) states that orthopaedic symptoms of orofacial pain and dysfunction have not generally been considered part of Goldenhar Syndrome complex. Our cases had no symptoms of orofacial pain except for one patient complaining of TMJ pain. Martelli et al (2010) reported orofacial features of 6 patients and out of them 2 (34%) were cleft lip and palate patients and one patient had temporomandibular disorder. Our series of patient showed only one (7%) with cleft lip and palate which was repaired. This tallies with the figure quoted in the literature which is 7 – 25% as reported by Tasse et al in 2005.
The hypoplastic maxilla or mandible have been reported to require surgical correction using distraction osteogenesis with possible bone grafting although none of the cases in this series required this surgery. Chauhan and Guruprasad (2015) mentioned about a Goldenhar Syndrome case with Tessier’s 7 cleft of the lateral face which required Distraction Osteogenesis for correction.
Ashokan et al ( 2014) states that Goldenhar Syndrome like features can be seen in Treacher – Collins syndrome as well. However in Treacher – Collins the facial presentation is very symmetrical unlike in Goldenhar Syndrome. Also Treacher – Collins syndrome does not show any ocular defects. Other rare syndromes that may need differential diagnosis are Wolf – Hirschhorn Syndrome, Townes – Brocks Syndrome and Delleman Syndrome.
These cases had reasonable levels of dental hygiene as this is essential prior to offering interceptive orthodontics.
The multiplicity of the malformations and their variability makes it necessary for this condition to be diagnosed early and for assessment by a multidisciplinary team including orthodontists in order to monitor the development or progress of intra oral pathologies and plan for appropriate interventions. Other members of the team may include ENT surgeon, plastic surgeon, clinical geneticists and speech and language therapists.
- Tasse C, Bohringer S, Fischer S, Ludecke HJ, Albrecht B, Horn D, et al. Oculo-auriculo- Vertebral spectrum (OAV) : clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet. 2005; 48: 397 – 411
- Khawaja SN, Crow H, Gonzalez Y. Goldenhar syndrome and pain related temporomandibular disorders. A case report. N Y State Dent J. 2016 Apr; 82 (3): 21-4
- Chauhan DS, Guruprasad Y. Goldenhar Syndrome with Tessier’s 7 cleft: Report of a case. J Maxillofac Oral Surg. 2015 Mar: 14 (suppl 1) : 42-6
- Ashokan CS, Sreenivasan A, Saraswathy GK. Goldenhar Syndrome – review with cases series. J Clin Diagn Res. 2014 Apr: 8(4) ZD17-9
- Tuna EB, Orino D, Ogawa K, Yildrim M, Seymen F, Gencay K, Maeda T. Craniofacial and dental characteristics of Goldenhar Syndrome: a report of two cases. J Oral Sci. 2011 Mar; 53(1): 121-4
- Martelli H Jr, Miranda RT, Fernandes CM, Bonan PR, Pranaiba LM, Graner E, Coletta RD. Goldenhar Syndrome: clinical features with orofacial emphasis. J Appl Oral Sci. 2010 Dec;18(6): 646-9
- Vinay C, Reddy RS, Uloopi KS, Madhuri V, Sekhar RC. Craniofacial features in Goldenhar Syndrome. J Indian soC Pedod Prev Dent 2009 Apr-Jun; 27(2) : 121-4
- Sai Sankar AJ, Bandi S, Akkla SG, Chinta M. Oral rehabilitation of a child with Goldenhar Syndrome. Journal of young pharmacists. 2015 Jul-Sep; 7(3);276-280
- Kokavec R. Goldenhar Syndrome with various clinical manifestations. Cleft Palate Craniofac J. 2006; 43(5): 628-34
- Gorlin R, Jue K, Jacohsen U, Goldschmidt E. Oculovertebral dysplasia. J Pediatr. 1963; 63(5):991-9
- Bielicka B, Necka A, Andrych M. Interdisciplinary treatment of patients with Goldenhar Syndrome- clinical reports. Dent Med Probl. 43: 458-62
