title: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  Pena-Shokeir syndrome type I is associated with a degenerative process in the labyrinth.
authors.affiliation: Department of Otolaryngology, University of Minnesota, Minneapolis, MN, USA Department of Otolaryngology-Head and Neck Surgery, Gebze Fatih State Hospital, Gebze, Kocaeli, Turkey.
authors.forename: Serdar
authors.initials: S
authors.lastname: Kaya
authors.affiliation: Stem Cell Institute, University of Minnesota, Minneapolis, MN, USA.
authors.forename: Fatıma Kübra
authors.initials: FK
authors.lastname: Kaya
authors.affiliation: Department of Otolaryngology, University of Minnesota, Minneapolis, MN, USA Department of Otolaryngology-Head and Neck Surgery, Giresun A. Ilhan Ozdemir State Hospital, Giresun, Turkey.
authors.forename: Ömer
authors.initials: Ö
authors.lastname: Hızlı
authors.affiliation: Paparella Ear Head & Neck Institute, Minneapolis, MN, USA.
authors.forename: Michael M
authors.initials: MM
authors.lastname: Paparella
authors.affiliation: Department of Otolaryngology, University of Minnesota, Minneapolis, MN, USA cureo003@umn.edu.
authors.forename: Sebahattin
authors.initials: S
authors.lastname: Cureoglu
mesh_terms: D001176:Arthrogryposis / Q000473:pathology*; D003051:Cochlea / Q000473:pathology; D004432:Ear, Middle / Q000473:pathology; D005154:Facial Nerve / Q000473:pathology; D006198:Hair Cells, Auditory / Q000473:pathology; D018069:Hair Cells, Vestibular / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012444:Saccule and Utricle / Q000473:pathology; D012583:Schwann Cells / Q000473:pathology; D013136:Spiral Ganglion / Q000473:pathology; D013701:Temporal Bone / Q000473:pathology*
keywords: Pena-Shokeir syndrome; Schwann cell; cochlear hair cell; facial nerve; histopathology; human temporal bone; presbycusis; spiral ganglion cell; vestibular hair cell