Tessier cranio-facial clefts presenting to a tertiary eye care center in Northern India: Ophthalmic features and a review of management.

Purpose: Tessier classification is used to classify congenital facial cleft disorders utilizing the anatomical location of the cleft and its extension. The orbital and ocular morbidities associated with the birth disorder are numerous. The authors decided to perform a retrospective analysis of the clinical features of the patients who presented to a tertiary care hospital with orbito-cranial clefts.
Methods: The authors retrospectively evaluated the records of patients with craniofacial clefts who had presented to a tertiary eye care hospital in northern India in the last 2 years (January 2019-December 2020). The clinical features were studied, entered in MS Excel, and the data were evaluated.
Results: The data of 40 patients with Tessier cleft were found. The majority of the patients were male and presented in the pediatric age group. Unilateral involvement was more common, with maxillary hypoplasia being the most common facial anomaly associated. Eyelid coloboma and euryblepharon was the most common periocular finding; lateral epibulbar dermoid and corneal opacity were the most common ocular surface anomaly. The majority of patients had presented for cosmetic correction. The syndromic association was with Goldenhar syndrome (n = 13), Fraser (n = 2), and one each of Treacher Collins, blepharocheilodontic, organoid nevus, and oculo-dento-digital syndrome. Combined clefts were also seen.
Conclusion: Tessier cleft classification is a useful tool to classify cranio-facial left anomalies. Multitudes of ocular and orbital anomalies can be associated with their different forms. Better knowledge and understanding of the classification will aid immensely in predicting the ocular defects and planning their management.

Cleft disorders of the head and face may be found isolated or in combination with skeletal and soft tissue disorders.[1] The condition has been studied in the past and many attempts have been made to classify them.[23] Tessier described the classification of orbito-cranial clefts based on their anatomic location and extension. The nomenclature included both soft tissue and bony anomalies. He used orbit as the primary reference point, described 15 different possible lines of cleft formation, and allotted a specific number to each [Fig. 1]. Numbers 0 and 14 were the median clefts, 1, 2, 12, and 13 were the paramedian clefts, 3 and 4 were the oculo-nasal cleft, 5 was the oculo-facial cleft, 6, 7, 8 were the lateral clefts, 9 was the upper lateral, 10 was the upper central, and 11 was the upper medial cleft. Although multiple case reports of individual Tessier cleft numbers exist in the literature, there are obvious large-scale studies on ophthalmic features of patients with craniofacial cleft anomalies. The author planned to perform a retrospective review of these patients who had presented to a tertiary eye care center in northern India to classify them according to the Tessier classification and study the surgical planning performed.

Figure 1

Schematic diagram showing bony (left half) and soft tissue (right half) craniofacial clefts

Methods

This retrospective study was conducted in a tertiary eye care hospital in northern India. Medical records of all patients who presented to the oculoplasty clinic with facial cleft disorders between January 2019 and January 2020 were considered for the study. All information regarding the history, clinical features, and management was collected and entered in MS Excel and analyzed. Informed consent was obtained from all patients or their guardians.

Results

Forty patients were identified on retrospective evaluation of institution records [Figs. 2 and 3]. The mean age of presentation was 9.73 years (range: 1 month–24 years). The ratio of males to females was 26:14, showing a higher male preponderance. Fourteen patients had bilateral and 26 patients (right: left–15:11) had unilateral Tessier cleft. Facial clefts were bilateral in 14 patients.

Figure 2

Clinical image of patients with unilateral Tessier cleft

Figure 3

Clinical image of patients with bilateral Tessier cleft

Single clefts: Type 8 cleft was bilateral in three cases and unilateral in five cases. Type 10 cleft unilateral in four cases and one bilateral case had only on the left side. Type 4 cleft was noted in only five unilateral clefts. Type 3 cleft was bilateral and unilateral in two cases each, and one bilateral case had only on the left side. Only one case had unilateral type 11 cleft. One case had type 8 cleft on the right side and type 11 on the left side.

Combined clefts: Type 3 and 8 clefts were commonly seen (12 and 11 sides, respectively) associated with other types of clefts. The rest of the details of combined clefts are given in [Table 1].

Table 1

Features of combined clefts and their common combinations

Tessier number	Ophthalmic features
0,1,2,14	Hypertelorism, microphthalmos
3,4	Lower eyelid coloboma
	Lacrimal drainage anomalies
	Symblepharon
	Microphthalmos
	Irido-fundal coloboma
5	Lower eyelid coloboma
	Symblepharon
	Lagophthalmos
6,7,8	Euryblepharon
	Lateral canthal dystopia
	Lipodermoid
9,10,11,12	Eyebrow madarosis
	Eyebrow cleft
	Eyelid coloboma
	Superior symblepharon
	Anterior staphyloma

Syndromic association was seen that included Goldenhar syndrome (n = 13), Fraser syndrome (n = 2), Treacher Collins syndrome (n = 2), blepharocheilodontic syndrome (n = 1), organoid nevus syndrome (n = 1), and oculo-dento-digital dysplasia (n = 1). Other associated features included hemangioma over the cheek, syndactyly, camptodactyly, oxycephaly, and arachnoid cyst.

Facial anomalies included maxillary hypoplasia (n = 4), retrognathia (n = 4), hemi-nasal aplasia, and hypoplasia (n = 1 each), asymmetric nares (n = 3), depressed nasal bridge (n = 2), broad nasal bridge (n = 2), microtia (n = 3), and accessory auricles (n = 5). Five patients had operated cleft lips during presentation [Table 2].

Table 2

Clinical details of patients

Case no.	Age/sex	Tessier cleft		Syndromic association	Facial features	Other features	Periocular features	Lacrimal system	Ocular surface and other findings	Presenting complaint	Management advised
		OD	OS
1	14/M	8	-	GS	Retrognathia, Broad philtrum	-	Euryblepharon,	NA	Lateral epibulbar dermoid	Cosmetic	Dermoid excision
2	12/M	-	3,4	-	-	-	LL Col, IN OR notch	Displaced lower punctum	Inferior symblepharon, Localised LSCD	Epiphora, Lagophthalmos and Cosmetic	Medial canthoplasty
3	4 m/F	10	-	-	Cheek hemangioma	Operated cleft lip and palate	UL Col., Madarosis, Superior OR notch	Displaced upper puncta	Superior symblepharon	Lagophthalmos	Direct closure
4	6/F	4,6	3	GS	-	Operated cleft lip and palate	LL Col., IN OR notch	-	Microcornea with IFC	Lagophthalmos	Skin grafting
5	1/M	-	3,8	-	Heminasal hypoplasia	-	UL shortening, IN OR notch	Punctal agenesis	Exposure keratopathy, conjunctival keratinization	Lagophthalmos	Lateral tarsorrhaphy
6	11/M	-	8	-	-	-	Euryblepharon, Lateral canthal dystopia, UL Col.	NA	Conjunctival keratinization	Cosmetic	Lateral canthoplasty
7	19/M	3,4	-	-	-	-	LL Col., IN OR notch	Lower punctal agenesis	NA	Cosmetic	Medial canthoplasty
8	12/M	3,8	-	-	-	-	Euryblepharon	NA	Lateral epibulbar dermoid	Cosmetic	Dermoid excision
9	11/F	3,10	-	GS	Asymmetric nares	Syndactyly	UL Col., Madarosis, Superior OR notch	Punctal agenesis	Corneal opacity with conjunctival keratinization	Cosmetic	Skin grafting
10	11/M	8	8	FS	-	Operated cleft lip	Euryblepharon	NA	NA	Cosmetic	Lateral canthoplasty
11	3 m/M	8,10	8	TCS	-	-	UL Col., Euryblepharon	Displaced upper puncta, NLDO	Corneal opacity, limbal dermoid, conjunctival keratinization	Lagophthalmos	Direct closure
12	11/M	10	-	GS	-	-	UL Col., Madarosis, ST OR notch	Displaced upper puncta	NA	Cosmetic	Dermoid excision with coloboma repair
13	7/M	6,7,8	6,7,8	-	Microtia	Oxycephaly	LL Col., IT OR notch	NA	Corneal opacity	Cosmetic	Lubricants
14	8/M	4	-	TCS	-	-	LL Col., IN OR notch	Lower punctal agenesis	Inferior symblepharon, localized LSCD	Cosmetic	Lubricants
15	21/M	4	-	-	-	-	LL Col., IN OR notch	Lower punctal agenesis	Localized LSCD	Cosmetic	Medial canthoplasty
16	2/M	10	-	-	-	-	UL Col., Madarosis, Superior OR notch	Displaced upper puncta	Corneal opacity, localized LSCD	Lagophthalmos	Tarsorrhaphy
17	2/F	8	8	GS	Accessory auricles	-	Euryblepharon	Limbal dermoid	Cosmetic	Dermoid excision
18	23/F	3,8	3,8	GS	Maxillary hypoplasia	-	Euryblepharon	Limbal dermoid	Cosmetic	Dermoid excision
19	2 m/F	3,8,9	10	GS	Accessory auricles, Microtia, Intranasal mass	Operated cleft lip	UL Col., Euryblepharon, Superior OR notch	Punctal agenesis, absent sac	Anterior staphyloma, Corneal opacity	Lagophthalmos	Dermoid excision with coloboma repair with Tarsorrhaphy
20	23/F	6,8	6,8	GS	Accessory auricles, Retrognathia	-	Euryblepharon	NA	Lateral epibulbar dermoid	Cosmetic	Dermoid excision
21	7/F	8	8	GS	Accessory auricles, Cheek skin tags, Depressed nasal bridge	High arched palate	Euryblepharon, UL Col., Madarosis (OS)	NA	Lateral epibulbar dermoid	Cosmetic	Dermoid excision
22	8/M	-	4	BCD	Retrognathia	-	Ectropion, IN OR notch	Lower puncta not apposed to the globe	Symblepharon, Conjunctival keratinization, Corneal opacity, MED	Cosmetic	Skin grafting
23	8/F	8	11	GS	Microtia	-	Euryblepharon, UL Col.	NA	Lateral epibulbar dermoid	Cosmetic	Direct closure
24	2/M	-	8	GS	Accessory auricles	-	Euryblepharon	NA	Lateral epibulbar dermoid	Cosmetic	Dermoid excision
25	9/M	3	3	-	Depressed nasal bridge	Operated cleft lip	NA	NLDO	Microcornea with IFC (OS)	Watering and discharge	DCR
26	9/M	3,11	3,11	FS	-	-	UL Col. (shallow)	NLDO	Corneal opacity	Watering and discharge	Topical antibiotics
27	15/F	-	3,4	-	-	-	LL Col., IN OR notch	Punctal agenesis, NLDO	Microphthalmia with IFC	Cosmetic	Medial canthoplasty
28	24/F	-	11	GS	Asymmetric nares, cheek skin tag	-	UL Col., Superior OR notch		Corneal opacity	Cosmetic	Skin graft
29	6 m/M	-	11,10	ONS	-	-	UL Col.,	Choristoma	Cosmetic	Coloboma repair
30	2/M	-	11,8	-	-	-	UL Col.,	Displaced upper punctum	Superior symblepharon	Cosmetic	Coloboma repair with therapeutic syringing
31	24/M	-	4	-	-	-	LL Col., IN OR notch	NLDO	Iris Coloboma	Cosmetic	Medial canthoplasty
32	22/M	3	-	-	-	High arched palate	LL Col., IN OR notch	NA	Microphthalmia with cyst	Cosmetic	Medial canthoplasty
33	7/M	3	-	-	Asymmetric nares	-	LL Col., Ptosis, IN OR notch	NLDO	NA	Watering and discharge	DCR
34	23/M	9,10,11	9,10,11	-	Broad nasal bridge	-	UL Col., Madarosis	NA	Superior symblepharon	Cosmetic	Symblepharon release
35	10/M	3	3	ODD	Broad nasal bridge, Asymmetric nares, Maxillary hypoplasia	Camptodactyly, High arched palate	Medial canthal dystopia, IN OR notch	NLDO, dacryocele	Microcornea with IFC	Watering and discharge	DCR
36	6/M	10	-	-	Retrognathia	Arachnoid cyst	UL Col., Madarosis, ST cleft	NA	Exposure keratopathy with conjunctival keratinization	Watering and discharge	Lubricants
37	13/M	-	1,2,3	-	Heminasal aplasia, Maxillary apoplasia	-	Medial canthal dystopia, Synorphys, IN OR notch	Absent sac	Microphthalmos	Watering and discharge	DCR
38	1/F	8	-	GS	-	-	Euryblepharon	NA	Lateral epibulbar dermoid, Abduction limitation	Cosmetic	Dermoid excision
39	1 m/M	10	-	-	-	-	UL Col., Madarosis	NA	Corneal opacity with superior symblepharon, Depression limitation	Lagophthalmos	Lubricants (planned for Cutler beard flap)
40	4/F	4	-	-	Maxillary hypoplasia	Operated cleft lip and palate	LL Col., IN OR notch	Punctal agenesis	Inferior conjunctival scarring	Watering and discharge	Lubricants

GHS- Goldenhar syndrome, FS- Fraser syndrome, TCS- Treacher Collins syndrome, BCD- Blepharocheilodontic syndrome, ONS- Organoid Nevus syndrome, ODD- Oculo-Dento-Digital syndrome, LSCD- Limbal stem cell deficiency, OR- Orbital Rim, IN- Infero nasal, IT- Infero temporal, SN- Supero nasal, UL- upper eyelid, LL- lower eyelid, Col. - Coloboma, IFC- iridofundal coloboma, MED- monoocular elevation deficit, DCR- Dacryocystorhinostomy, NA- no abnormality detected

Periocular anomalies

Periocular anomalies included upper eyelid coloboma (n = 17), lower eyelid coloboma (n = 12), euryblepharon (n = 12), eyebrow madarosis (n = 9), ptosis (n = 1), lateral canthal dystopia (n = 1), medial canthal dystopia (n = 2), ectropion (n = 1), and synorphys (n = 1). Lacrimal drainage system anomalies included nasolacrimal duct obstruction (n = 7), punctal agenesis (n = 10), absent lacrimal sac (n = 4), and displaced punctum (n = 6). Orbital rim notching was noted superiorly (n = 5), superotemporally (n = 2), inferonasally (n = 14), and inferotemporally (n = 1).

Ocular surface anomalies

Limitation of elevation (n = 1), adduction (n = 1), and depression (n = 1) on examination for extraocular motility. Anterior segment anomalies included lateral epibulbar dermoid (n = 8), corneal opacity (n = 9), localized limbal stem cell deficiency (n = 4), limbal dermoid (n = 2), microcornea with iris coloboma (n = 6), microphthalmos (n = 3), superior symblepharon (n = 3), inferior symblepharon (n = 4), anterior staphyloma (n = 1), and complex choristoma (n = 1). Exposure keratopathy with conjunctival keratinization was present in seven patients due to lagophthalmos. On fundus examination of 30 patients, fundal coloboma was noted in six patients.

Surgery

The majority of patients had presented for cosmetic correction due to the presence of dermoid, coloboma, canthal dystopia, euryblepharon, symblepharon, and ectropion, which were managed by performing excision (n = 8), medial (n = 5), or lateral (n = 2) canthoplasty, direct closure of coloboma (n = 4), or by skin grafting (n = 2) and symblepharon release with amniotic membrane graft. Patients having lagophthalmos causing exposure keratopathy changes had undergone lateral tarsorrhaphy (n = 2), skin grafting (n = 1), and direct closure of coloboma (n = 1). Dacryocystorhinostomy (n = 5) was performed in patients complaining of epiphora.

Discussion

The first description of cranio-facial cleft was given by Albretch in 1885, after which Morian described three types of facial coloboma in 1887.[4] Burian attempted to classify craniofacial defects in 1953; however, a proper anatomic classification was first suggested by Gorlin in 1970.[4] All confusing terminologies were eventually removed by Tessier as he had described his nomenclature for cranio-facial clefts to build a tridimensional understanding of cranio-facial malformations.

Cranio-facial, orbito-maxillary clefts, and lateral facial clefts are rare clefts compared to cleft lip disorder,[4] the exact incidence of these cranio-facial clefts is not clearly known; however, a few studies estimate it to be between 1.4 and 6 per 100,000 live births.[56]

In a retrospective study by Bello et al.,[7] the authors noted that Tessier 1 was the commonest of all clefts (24%). There were 35 (60.3%) cases of middle cleft, 14 (24.2%) cases of oblique cleft, and 9 (15.5%) cases of the lateral cleft. Typical cleft lip and palate coexisted with atypical facial cleft in two (5.6%) patients. The cleft was found to be median in 12 (33.3%) patients and right-sided in 9 (25%) patients. However, in our study, the most common cleft was type 8 and type 3.

Ophthalmic features in these clefts are multiple; however, we observed that each Tessier cleft number had a unique constellation of features. The ocular and orbital findings differ when the clefts occur isolated and when they are combined.

Ocular findings in isolated clefts

Hypertelorism is the prevalent ophthalmic feature in cases of median and paramedian Tessier clefts (0,1,2,14,13,15).[89] Our retrospective study did not reveal any case fitting to median clefts. The possible reason is that these clefts are mostly associated with encephalocele and have fewer ocular abnormalities usually reported to the maxillofacial surgery department instead of ophthalmology.

In cases of numbers 3 and 4, the ophthalmic features include infero-medial lower eyelid coloboma, lacrimal drainage anomalies, and a symblepharon originating in the infero-medial aspect with surface keratinization, microphthalmos, anophthalmos, microcornea, lenticular coloboma, and irido-fundal coloboma.[101112]

Tessier cleft 5 has a cleft running from the lower eyelid to the midface, the ocular features generally include microphthalmos, irido-fundal coloboma, shortened lower eyelid, or lower eyelid coloboma resulting in lagophthalmos, ocular surface keratinization, and underlying notch in the inferior orbital rim.[13]

Tessier clefts 6, 7, and 8 usually occur in combination. In our study, we found a case of isolated Tessier 6; the ophthalmological features noted in that case were lower eyelid coloboma, lagophthalmos, and exposure keratopathy. Tessier 8 may be seen isolated.[1] The ophthalmic features include euryblepharon, lateral canthal dystopia, and most of the time a choristoma is seen on the lateral bulbar conjunctiva.

Tessier 9, 10, 11, and 12 are clefts involving the superior aspect of the orbit. The ophthalmic features include eyebrow madarosis, abnormal hairline, upper eyelid coloboma, superior symblepharon, ocular surface keratinization, and anterior staphyloma.[1415] In our study, we found that the madarosis was lateral in cleft 9 and medial in cleft 12.

Ocular findings in combined clefts

Tessier clefts have been reported to occur in combination numerous times in the past. The clefts lying in proximity tend to occur together. The median and paramedian Tessier 0, 3, and 4 have been reported in the past; so are reports of Tessier 6, 7, and 8, and the combination of Tessier 9, 10, and 11.[16] The ocular features in such scenarios are a mixture of ophthalmic findings of both.

Management of Tessier clefts

The management of ophthalmic features also depends on the ocular disorders. Lacrimal drainage system anomalies in Tessier 3 and 4 can be surgically corrected by performing a dacryocystorhinostomy or conjunctivo-dacryocystorhinostomy depending on the patency of the canalicular system. The infero-medial eyelid coloboma can be managed with the help of a medial canthoplasty or freshening of edges and attempting direct closure.

In Tessier 5, the surgical planning depends on the amount of anterior lamellar shortening and the severity of lagophthalmos. In mild cases, no surgical intervention is required; however, severe cases may warrant the use of full-thickness skin grafting.

The lateral canthal clefts, namely Tessier 6 and 8 can be surgically managed by performing a lateral canthoplasty or lateral tarsorrhaphy, tailoring the surgery as per the extent of euryblepharon. The often-associated lipodermoid should be carefully excised, taking care not to damage the underlying lateral rectus muscle or the palpebral lobe of the lacrimal gland. The wound can be closed in an amniotic membrane graft if required.

Surgical management of the superior group of clefts 9, 10, 11, and 12 includes full-thickness skin grafting for anterior lamellar shortening, lid sharing procedures for colobomas, and symblepharon release with amniotic membrane grafting, and fornix formation in cases of symblepharon.

Ocular surface disorders should be managed with copious lubricants. Counseling the parents regarding the disease and explaining the necessity of multiple surgeries is a must in all the above cases.

Conclusion

Each Tessier cleft number has a characteristic group of ophthalmic disorders, identifying the number helps in predicting the exact nature and extent of the pathology. The most common Tessier cleft presenting to the ophthalmology department is Tessier numbers 3 and 8, which are different from those presenting to the maxilla-facial surgery or otorhinolaryngology department. The management of these should be planned carefully taking into account all the surrounding abnormalities.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.