AbStract. An unusual case of bilateral hemifacial microsomia associated with a Tessier 2 facial cleft, macrostomia, and a columellar sinus is presented. A review of the literature suggests that no such entity has been previously reported and this was not part of a syndrome.
Key words: Hemifacial microsomia -MacrostomiaFacial cleftsAlthough macrostomia has been seen as a component of craniofacial microsomia, an unusual case associated with facial clefting is presented and the embryologic features are discussed.
Case reportA one-month-old female presented with bilateral craniofacial microsomia and a right sided transverse cleft resulting in macrostomia. On physical examination, she was noted to have a small mandible with bilateral preauricular appendages. A Tessier #2 or 3 facial cleft was seen associated with left alar duplication, a right alar cleft, a sinus at the base of the columella and on the tip of the nose. In addition, there was a small coloboma of her left lower eyelid and the left upper eyelid. She also had a high arched palate ( Fig. 1).At 11/2 years of age, the preanricular appendages were excised on the right ala, excess skin and subcutaneous tissue was removed and the rim was contoured and reconstructed with Z-plasty flaps, the left nasal ala duplication was excised, and the right macrostomia was reconstructed. The columellar sinus was also explored and found to extend for 3-4 ram, this was completely excised as was the shallow nasal tip sinus. The left lacrimal system was explored and found to be intact. At a later date the medial colobomas of the left upper and lower lids were excised and repaired in layers in the standard fashion (Fig. 2).Three dimensional CT scan using the a ANALYZE 1 system obtained when the patient was 5 years of age revealed that the left with the left globe lying at a higher level. The right maxilla was more hypoplastic than the left with an upward tilt of the maxillary occlusion. The right ascending ramus was shorter vertically than the left (24.5 mm vs 35.6 mm) and the right zygomatic arch was shorter than the left (15.8 mm vs 21.7 ram) (Fig. 3).
DiscussionCongenital macrostomia occurs in 1:100-1:300 of all facial cleft patients and is usually associated with deformities of other structures developed from the first and second branchial arches. It is thought to be a component of craniofacial microsomia. As such, it is associated with preauricular skin tags, cheek tags, auricular deformity, preauricular sinus, dermoid cysts of the eye, eyelid colobomas, underdeveloped facial muscles and masticatory muscles, cleft lip and palate, and hypoplasia of the mandible, maxilla, zygoma, and frontal areas. It most commonly occurs on the left [1][2][3][4].Macrostomia is thought to arise from the mesoderm failing to migrate and obliterate the grooves between the maxillary and mandibular embryonic prominence. On the other hand, facial clefts are thought to be either a failure of fusion of the facial processes or a failure of the neuroectoderm to penetrate the mesoderm resulting in the uns...