Analysis and treatment of hemifacial microsomia

Abstract

In the late forties, Braithwaite and Watson [1] reported this condition but it was not until the early sixties, that Gorlin and Pindborg provided a detailed description of hemifacial microsomia [2]. This complex and variable congenital anomaly involves the first and second brachial arches and the nasal placode. Usually it is unilateral, but in 5–15% it can be bilateral. A similar condition is Goldenhar’s syndrome, which is craniofacial microsomia and although other names have been coined, e.g. the first and second brachial arch syndrome, lateral facial dysplasia, facial auricular vertebral deformity, ocular auricular vertebral dysplasia and unilateral otomandibular dysostosis. Most cases are sporadic although autosomal dominant and recessive conditions have been reported. The syndrome has many features. In the ear area, there may be a microtia or preauricular abnormalities, and these can vary from severe to mild. There also may be cardiac or renal problems and deformity of the skeleton other than the facial skeleton. Goldenhar’s syndrome is characterized by the presence of epibulbar dermoids and involvement of the cervical spine, some patients have ear appendages. In terms of the hereditary aspect, this condition can occur in 1:5500 live births [3]. The full fledged Goldenhar’s syndrome, however, is seen only in 10% of cases. There have been many theories put forward as to why this condition occurs. Poswillo suggested that a hematoma in utero resulted in jaw and ear deformities because of the tissue damage produced by the hematoma [4]. It was suggested that this occurred at 30–45 days gestation. An alternative vascular causation was ischemia in the area supplied by the stapedial artery. Other causative factors can be thalidomide and primadone, accutane and isotretinoin, these substances cause neural crest cell damage. Acute exposure to alcohol can result in asymmetrical facial development. Hemifacial microsomia shows a low familial incidence [5, 6]. In addition to this, the expression of the condition is quite variable.