Tessier Number 9 Craniofacial Cleft Associated with Goldenhar Syndrome and Its Surgical Management: A Report of a Rare Case

Abstract

Purpose:

To report surgical repair of a rare case of Tessier number 9 craniofacial cleft.

Methods:

Case report.

Results:

Tessier number 9 craniofacial cleft is the rarest cleft anomaly. This article reports a congenital eyelid coloboma in a 21-year-old woman that involved the lateral third of the left upper eyelid and extended to the lateral canthus, consistent with number 9 craniofacial cleft Tessier classification. The additional findings included a fibrotic band between the globe and the remnant of the upper lid, which caused a small-angle exotropia. There were also skin appendages in the preauricular area and the inner surface of the nasal columella consistent with Goldenhar syndrome. The eyelid coloboma was repaired by releasing the adhesions and using a composite graft of the hard palate to repair the posterior lamella. The anterior lamella was repaired by creating a skin advancement flap. The esthetic and functional outcomes were acceptable in the 2-year postoperative follow-up period.

Conclusion:

The composite hard palate graft can be used to repair posterior lamella defect in the case of Tessier number 9 craniofacial cleft.

INTRODUCTION

Craniofacial clefts are rare congenital anomalies seen in 1.5–5/100,000 live births.1 In 1976, Tessier anatomically classified the craniofacial clefts into 15 groups and enumerated them from number 0 to 14.2 Tessier number 9 is the rarest form. Interestingly, Tessier did not personally observe this type and cited from other persons. Thus, very few reports of this type of coloboma have been reported in the medical literature.3,4,5

Herein, we report a patient with Tessier number 9 craniofacial cleft, who presented with lateral upper eyelid coloboma associated with Goldenhar syndrome and its surgical management.

CASE REPORT

A 21-year-old woman presented to our clinic complaining of a congenital defect in the left upper eyelid. The medical history was unremarkable. The prenatal evaluation was reportedly normal, she was born full-term, and there was no history of the mother’s exposure to radiation, chemicals, or drugs during the pregnancy. Her parents were healthy and unrelated before marriage. There was no family history of craniofacial deformities. On clinical examination, the refraction was −1.25–0.75 × 15° in the right eye and plano −1 × 55° in the left eye with the best-corrected visual acuity of 10/10 and 3/10 in the right and left eyes, respectively. Examinations of the anterior and posterior segments of the eyes were unremarkable. The examination of the extraocular movements showed a mild limitation in adduction of the left eye with 20 prism diopters exotropia. A full-thickness coloboma was present in the lateral third of the left upper eyelid, which extended to the lateral canthus [Figure 1a and b]. A fibrotic tissue attached the globe to the eyelid remnant tissues in the coloboma site, which seemed to cause the mechanical restriction of the globe and strabismus [Figure 1a and c]. Since no apparent bone defect was noted in the inspection and palpation, an orbital computed tomography scan was not ordered. The additional findings in her examination included two skin appendages, one in front of the tragus of the left external ear [Figure 1b] and the other one in the left inner surface of the nasal columella [Figure 1d].

Figure 1.

Clinical photograph of the patient. (a) Left upper eyelid coloboma at the lateral third of the eyelid and small-angle left exotropia, (b) Lateral view of the eyelid coloboma (black arrow) and skin appendages in front of the ear tragus (white arrow), (c) Attachment of the globe to the eyelid remnant with fibrotic tissue, (d) Skin appendages on the inner surface of the nasal columella (white arrow)

The patient underwent surgery to reconstruct the lid defect. First, the conjunctival adhesions were released from the globe; then, a composite autograft was harvested from the hard palate and used to repair the eyelid posterior lamellar defect. The anterior lamella was repaired by creating an advanced skin flap. Immediately after the surgery and during a 2-year follow-up [Video 1], the patient’s eyelid contour was esthetically and functionally satisfactory. In addition, exotropia and adduction limitation of the left eye improved after the operation [Figure 2].

Figure 2.

Clinical photograph of the patient after the operation. (a) Anterior view, (b) Lateral view

We have obtained the patient’s consent to publish her data and photographs in medical journals.

DISCUSSION

This article described the clinical features and surgical management of a patient with lateral eyelid coloboma due to craniofacial cleft number 9 in the Tessier classification. Tessier number 9 cleft was described as a defect involving the lateral third of the upper lid with possible underlying bone defects that may extend to the temporal fossa.2,4

The Tessier classification was based on the facial cleft positions in 336 patients who underwent clinical and radiographic evaluations and extensive anatomical dissection during surgery. The orbit is the primary reference structure for numbering the clefts. The orbit is divided into the upper and lower poles; the clefts of the lower eyelids, cheeks, and lips were described as facial or southbound clefts, and the clefts of the upper face and upper eyelid were classified as cranial or northbound clefts. In this classification, 15 craniofacial clefts were described from numbers 0 to 14. Five of these clefts do not involve the orbit, including clefts 0, 1, 2, and 14 in the middle parts of the face and cleft 7 in the lateral parts of the face. The remaining nine clefts involve the orbit and periocular area. Clefts 3–6 are southbound, and clefts 8–13 are northbound. For almost every cleft at the top part of the orbit, an equivalent counterpart at the bottom of the orbit can be considered; however, these clefts are created independently.1,3,5,6

Tessier considered eyelid coloboma is a type of craniofacial cleft. The underlying pathophysiology of craniofacial clefts and colobomas is unknown. Various factors such as amniotic bands, inflammation, decreased placental blood flow, mechanical factors, and abnormal vascular system have been suggested as causes of eyelid coloboma.7

Craniofacial clefts may be isolated or multiple,3,5 and they may be part of a systemic disorder like Goldenhar or Treacher Collins syndrome. Although Tessier proposed a time zone pattern for craniofacial clefts, some clefts may appear in pairs in the same vertical plane;2 however, they do not always follow this pattern. For instance, cleft number 9 has been reported in association with other clefts, including cleft number 5.3,8 In our case, no other associated craniofacial clefts were noted. Our patient had some periauricular skin tags that suggest Goldenhar syndrome although she did not fulfill other criteria for Goldenhar syndrome.

There is high variability in the involvement of the bones and soft-tissue structures.4 The eyelid coloboma in craniofacial cleft number 9 can be very severe and cause severe exposure keratopathy shortly after birth, which needs early intervention.2,3,8 In other cases, the defect is mild with minimal corneal exposure.4 In our patient, the upper eyelid coloboma was located in the supralateral region of the orbit without visible or palpable bone involvement. There was no corneal exposure, and the patient did not seek treatment until her adult age.

Coloboma can be associated with strabismus due to high refractive errors, corneal opacity, or fibrotic bands causing ocular restriction, as noted in our patient.2,9 In this case, the exotropia was resolved by releasing the fibrous tissues.

In our patient, myopia and astigmatism were less pronounced in the involved eye than in the fellow eye. In primate models and humans, myopia developed after suturing the eyelids in infancy.9 Furthermore, in patients with unilateral ptosis, it was shown that the ptotic eyes were more myopic than the normal eyes.10 Perhaps, in the case of eyelid colobomas like our patient, the opposite mechanism and relative hyperopia can be expected compared to the normal eye. In a patient with associated cleft 9 and 5, anisometropic hyperopia of 7 diopters was reported in the affected eye.8 However, some studies have not shown this finding.7

Other reported associations of cleft number 9 include microphthalmia,6,8 other craniofacial clefts, including cleft number 2,⁵ 3,⁴ and 5,⁸ craniosynostosis, and iris coloboma.11 There is also a case report of cleft number 9 with bilateral involvement.3

Various methods have been introduced to repair upper eyelid coloboma. If the eyelid defect is less than a quarter of the eyelid length, the two edges of the defect can be directly attached. In more significant defects, various flaps and grafts might be used, including rotating the entire thickness of the lower eyelid,11 and full thickness sliding flap of the upper lid that would cover lash defect too. In this patient, we used a hard palate graft to repair the posterior lamella and an advancement flap to repair the anterior lamella. The advantages of this method include the prevention of excessive eyelid stretch and consecutive ptosis that may happen after direct closure. Furthermore, in this procedure, the contour of the lower eyelid will be preserved as opposed to the rotational lower lid flap.2 Moreover, using the hard palate provided long-term stability of eyelid tissue without lid retraction.

There are few reports of craniofacial cleft number 9 in the literature. Our patient had unilateral isolated cleft number 9 causing coloboma in the lateral portion of the upper lid. We successfully used a hard palate graft with advancement skin flap to reconstruct the eyelid defect.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that her name and initials will not be published, and due efforts will be made to conceal her identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.