1. Otopathologic Findings of Pena-Shokeir Syndrome Type I
- Author
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Serdar Kaya, Michael M. Paparella, Omer Hizli, Sebahattin Cureoglu, Fatıma Kübra Kaya, and Giresun Üniversitesi
- Subjects
Male ,Ear, Middle ,Hair Cells, Vestibular ,03 medical and health sciences ,Pulmonary hypoplasia ,0302 clinical medicine ,Hair Cells, Auditory ,otorhinolaryngologic diseases ,medicine ,Humans ,human temporal bone ,Inner ear ,Saccule and Utricle ,Pena-Shokeir syndrome ,030223 otorhinolaryngology ,Cochlea ,Vestibular Hair Cell ,Spiral ganglion ,Arthrogryposis ,Pena-Shokeir Syndrome ,business.industry ,Infant, Newborn ,Temporal Bone ,General Medicine ,Anatomy ,medicine.disease ,Facial nerve ,Schwann cell ,Hypoplasia ,medicine.anatomical_structure ,cochlear hair cell ,Otorhinolaryngology ,histopathology ,facial nerve ,Schwann Cells ,sense organs ,vestibular hair cell ,Spiral Ganglion ,business ,spiral ganglion cell ,presbycusis ,030217 neurology & neurosurgery - Abstract
Hizli, Omer/0000-0001-6822-2679 WOS: 000380913900011 PubMed: 27067155 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. National Institute on Deafness and Other Communication Disorders (NIDCD)United States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute on Deafness & Other Communication Disorders (NIDCD) [U24 DC011968-01]; International Hearing Foundation; Starkey Hearing Foundation; 5M Lions International; Scientific and Technological Research Council of Turkey (TUBITAK)Turkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: The study was supported by the National Institute on Deafness and Other Communication Disorders (NIDCD), grant number U24 DC011968-01; the International Hearing Foundation; the Starkey Hearing Foundation; the 5M Lions International; and the Scientific and Technological Research Council of Turkey (TUBITAK).
- Published
- 2016
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