Copyright 2000 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2000
Ablepharon macrostomia syndrome (AMS) is a rare congenital disorder. To our knowledge, only 4 cases have been reported since the original description of this syndrome by McCarthy and West1 in 1977.2- 5 The syndrome is characterized by redundant skin, low-set ears, macrostomia, ambiguous genitalia, and severe eyelid malformation.1- 5 Although the designation ablepharon literally means absence of eyelids, some patients have been described as having inadequate3 or shortened2 eyelids. Several techniques have been used to reconstruct the eyelids in patients with AMS, including rotational and bridge flaps.2,3
Four years ago we had the opportunity to operate on one patient with AMS.4 At that time we suggested that the eyelid condition in AMS should not be considered a true example of ablepharia because key anatomical structures were clearly present in the malformed upper eyelids.4 The relative normality of the posterior lamella allowed us to make an excellent reconstruction using free skin grafts only.4
In this article we report for the first time to our knowledge a familial AMS recurrence. Intraoperative photographic documentation of this case confirms that AMS is not a true ablepharia. Long-term surgical results from our first case demonstrate that free skin grafts placed over the Müller muscle layer provide adequate and long-standing corneal protection with excellent eyelid position and motility.
The patient, a girl, was born at term by cesarean delivery to a 22-year-old mother and nonconsanguineous 26-year-old father. At birth several anomalies were noted: severely shortened upper and lower eyelids without eyelashes, bilateral exposure keratopathy and chemosis, hypertelorism, flattened malar eminences, macrostomia (fishlike mouth), malformed and low-set ears, a nose with bilateral alar deformity, dry and redundant skin, absence of lanugo, female genitalia with vagina near the anus, and an omphalocele that was surgically corrected at birth. The infant was the third child of a family whose first child was born with AMS.4 A second child born 2 years earlier was healthy. When we examined the patient on her third day of life, both corneas were clouded by central ulcers.
Surgery started with a skin incision placed between the eyelid margin and the lower border of the eyebrows (Figure 1, A). After opening the orbicularis oculi muscle layer, the septum was easily identified (Figure 2, A). The septum was then incised, allowing the preaponeurotic fat to prolapse. The fat was excised and the levator aponeurosis exposed (Figure 2, B). The tarsal plate was not identifiable. The aponeurosis, which had a normal appearance, was removed from the margin up to the superior orbital rim level (Figure 2, C). The Whitnall ligament was not developed. After these steps, the eyelid margin could be moved down without any tension. The Müller muscle layer also had a normal appearance, including the presence of a supratarsal vascular arcade near the margin. A full skin graft was taken from the supraclavicular fossa and sutured to the wound directly over the Müller muscle. Mattress sutures were passed laterally from the conjunctival side and tied over a bolster on top of the graft, reducing upper fornix prolapse.
A, Ablepharon macrostomia syndrome with bilateral corneal ulcers on the patient's third day of life. B, Placement of the upper eyelid incision and final result, one week after surgery. The corneas are not clouded.
A, After opening the skin and the orbicularis muscle layer, the septum is easily exposed. B, Preaponeurotic fat and levator aponeurosis. C, Excision of the levator aponeurosis.
This procedure is exactly the same as the one we used to reconstruct the upper eyelids of our first patient with AMS. Figure 3 shows that after a 4-year follow-up period, the upper eyelids are still in good position, contour is smooth, and corneal protection is excellent.
A, Ablepharon macrostomia syndrome. B, Four years after surgery.
Instead of a full-thickness skin graft, we decided to lengthen the lower eyelids with local flaps. An infraciliar horizontal skin approach was used to open the orbicularis muscle layer. The tarsal plates were absent. A white tissue beneath the orbicularis oculi muscle was identified as a fibrous expansion of the capsule-palpebral fascia. Careful incision of this tissue revealed a more vascularized muscle layer. The defect created was more important laterally than medially. Vertical flaps from the zygomatic region were then rotated to allow support for the lateral canthus area and correct the lower eyelid retraction.
The main goal when performing surgery on patients with AMS is to reduce the area of the palpebral fissure and thus provide adequate corneal protection. If a real ablepharia existed in AMS, eyelid repair would be complex; that is not the case. The eyelids in patients with AMS are abnormal, but most key anatomical structures are present, including skin, orbicularis oculi muscle, septum, preaponeurotic fat, levator aponeurosis, the Müller muscle, and conjunctiva. Only the more anterior structures (skin, orbicularis oculi muscle, septum, and levator aponeurosis) are vertically shortened, raising the eyelid margin close to the eyebrows. The posterior lamella (conjunctiva and Müller muscle) is not shortened and therefore prolapses.
The goal of the eyelid repair is to lengthen all layers that are located anterior to the Müller muscle. The procedure allows us to take advantage of the relative normality of the posterior eyelid lamella. Septum incision and levator aponeurosis recession are essential steps for achieving a good final position. For the 2 patients on which we have operated, the Müller muscle layer provided excellent blood support to the free skin grafts (Figure 1, B and Figure 2, B). Patients with AMS have loose, redundant skin, and grafts can be taken from different sites. In the upper eyelids, the free skin grafts allowed for good eyelid position and motility. In both patients contour was smooth, with excellent corneal protection. In the less mobile lower eyelids, the main goal is to correct the lateral retraction. Local flaps probably offer a more stable result than free skin grafts.
In conclusion, patients with AMS should be described as having an extreme form of vertical eyelid shortening rather than ablepharia. A thorough understanding of the eyelid anatomy in patients with AMS is important because this syndrome represents one of the most dramatic examples of an eyelid surgical emergency in neonates. Upper eyelid repair is not as complicated as the clinical picture might suggest, but it cannot be delayed.
Corresponding author: Antonio A. V. Cruz, Departamento de Oftalmologia, Hospital das Clínicas–Campus, Faculdade de Medicina de Ribeirão Preto–USP, Ribeirão Preto, São Paulo 14048-900, Brazil (e-mail: email@example.com).
Cruz AAV, Souza CA, Ferraz VEF, Monteiro CAC, Martins FA. Familial Occurrence of Ablepharon Macrostomia Syndrome: Eyelid Structure and Surgical Considerations. Arch Ophthalmol. 2000;118(3):429-430. doi: