Otopathologic Findings of Pena-Shokeir Syndrome Type I

Abstract

Background: Pena-Shokeir syndrome type I is a rare genetic disorder that includes multiple congenital facial and joint anomalies as well as pulmonary hypoplasia. Affected infants are usually premature, and 30% of them are stillborn. So far, studies have reported low-set ears in such infants, with no middle or inner ear findings. Method: Histopathological study of human temporal bones with Pena-Shokeir syndrome type I. Results: Our case report describes an infant with severely decreased number of spiral ganglion cells and number of outer and inner hair cells of the cochlea, mild loss of vestibular hair cells, hypoplasia in the facial nerves, and ischemic degeneration of Schwann cells in the modiolus. Conclusion: Pena-Shokeir syndrome type I is associated with a degenerative process in the labyrinth.