Dominant inheritance of hemifacial hyperplasia associated with strabismus

Abstract Different pathologic entities are summarized under the heading of “facial hemihyperplasia.” Size asymmetry of the teeth and precocious dental development on the affected (hyperplastic) side are regarded as unequivocal signs of the congenital form of the anomaly. This article describes three generations of a family (grandmother, mother, and five children) in whom hemihyperplasia was localized in the area of the zygoma and mandibular angle but not in the alveolar processes and the teeth. The grandmother was free of ocular pathosis, whereas the mother's eye on the affected side was found to be amblyopic. In the third generation, the facial asymmetry was associated with strabismus. In two children the eyes on the affected side were squinting, in one the contralateral eye was affected, and in two children alternating strabismus was found. In three the squinting eye was amblyopic; no amblyopia was found in the two youngest children with alternating strabismus. Such an association has not been described in the dental literature until now. A common pathogenesis of the facial asymmetry and ophthalmic pathosis is supposed; therefore, these disorders are regarded as constituting a syndrome.