Otolaryngologic Manifestations of Frontometaphysial Dysplasia: The Gorlin-Holt Syndrome

Abstract

The otolaryngologic aspect of two cases of a recently described osseous dysplasia called frontometaphysial dysplasia, or Gorlin-Holt syndrome, is elaborated. Particular emphasis is given to the oto-audiologic evaluation of these patients, including polytomography of the temporal bone. Both patients demonstrated a progressive mixed hearing loss demonstrated by serial audiogram with audiologic follow-up of nine and six years. The distinct ossicular chain abnormality including a fixed malleus demonstrated by polytomography was confirmed by an exploratory atticotympanotomy.