Hemifacial microsomia

Editor:

We would like to bring Goldenhar's syndrome to the attention of your readers. Also referred to as oculoauriculovertebral dysplasia and hemifacial microsomia, Goldenhar's syndrome is one of the hereditary deafness syndromes. It is characterized by external ear abnormalities, and it occurs in approximately one of every 5,600 to 45,000 births. (1) Although most cases occur sporadically, familial forms have been reported. (2)

The characteristic craniofacial features of this syndrome are believed to be the result of unilateral fetal developmental abnormalities of the first and second branchial arches. (1) In most cases, the facial asymmetry is caused by hypoplasia or aplasia of the mandibular ramus and condyle along with fusion of the cervical vertebrae. The degree of abnormality ranges from mild to severe. Anterior and inferior displacement of the external ear, a dysmorphic appearance, and preauricular tags are common. Conductive hearing loss, attributable to the developmental abnormality of the external ear canal and middle ear structures, has been reported in most cases. Three-dimensional surface reconstruction by computed tomography (CT) is an excellent imaging modality for visualizing the hypoplastic and distorted hemifacial structures (figure). (3)

Mehmet Tinaz, MD

Department of Otolaryngology

University of Istanbul School of Medicine

Istanbul, Turkey

Cagatay Oysu, MD

Department of Otolaryngology

Taksim State Hospital

Istanbul, Turkey

References

(1.) Allanson J. Genetic hearing loss associated with external ear abnormalities. In: Gorlin RJ, Toriello HV, Cohen MM, eds. Hereditary Hearing Loss and Its Syndromes. New York: Oxford University Press, 1995:69-73.

(2.) Regenbogen L, Godel V, Goya V, Goodman RM. Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia. Clin Genet 1982;21:161-7.

(3.) Remley KB, Swartz JD, Hamsberger HR. The external auditory canal. In: Swartz JD, Harnsberger HR, eds. Imaging of the Temporal Bone. 3rd ed. New York: Thieme Medical Publishers, 1998:16-46.

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