A histological study of the temporal bones and the nose in Wolf-Hirschhorn syndrome

We report the histopathological findings of the temporal bones and the nasal and paranasal specimen of a 7-month-old girl diagnosed as having Wolf-Hirschhorn or 4p- syndrome (deletion of the short arm of chromosome 4). This syndrome is characterized by growth retardation, mental retardation, and multiple congenital abnormalities, including craniofacial anomalies and hearing disturbance. These temporal bones displayed malformation of the ossicles, absence of the oval windows, abnormal course of the facial nerve with incomplete bony canal, and depression of the cochlear duct and the saccule. In addition, cholesteatoma, which might be of congenital origin, was present behind the eardrum. The nasal and paranasal specimen showed bilateral complete cleft palate with normal development of paranasal sinuses, nasal septum, and conchae.