Published January 1, 2016
| Version v1
Journal article
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Otopathologic Findings of Pena-Shokeir Syndrome Type I
- 1. Univ Minnesota, Stem Cell Inst, Minneapolis, MN USA
- 2. Paparella Ear Head & Neck Inst, Minneapolis, MN USA
- 3. Univ Minnesota, Dept Otolaryngol, Minneapolis, MN USA
Description
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.
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