Author Affiliations: Departments of Otorhinolaryngology-Head and Neck Surgery (Drs Eijkenboom, Cremers, and Kunst) and Radiology (Dr Verbist), Radboud University Nijmegen Medical Centre, and Donders Institute for Brain, Cognition, and Behaviour (Drs Cremers and Kunst), Radboud University Nijmegen, Nijmegen, Department of Otorhinolaryngology, Academic Medical Center, Amsterdam (Dr Eijkenboom), and Department of Radiology, Leiden University Medical Centre, Leiden (Dr Verbist), the Netherlands.
Robinow syndrome (RS) is characterized by hypertelorism, wide palpebral fissures with a short upturned nose, shortening of forearms and forelegs, and genital hypoplasia. The syndrome is classified into dominant (DRS) and recessive (RRS) types, each with distinguishing clinical findings. We evaluated a patient who was diagnosed as having RS with persistent hearing loss. Computed tomographic (CT) images showed ossicular chain changes and thickening of the skull and petrous bones, with appositional bone growth, causing a narrowing of the middle ear cavity and oval and round window niches. These findings were confirmed during an exploratory tympanotomy. To our knowledge, this is the first report of conductive hearing loss in RS.
Eijkenboom DF, Verbist BM, Cremers CWRJ, Kunst HPM. Bilateral Conductive Hearing Impairment With Hyperostosis of the Temporal BoneA New Finding in Robinow Syndrome. Arch Otolaryngol Head Neck Surg. 2012;138(3):309-312. doi:10.1001/archoto.2011.1459