A Case of Tracheotomy in a Patient with Pena-Shokeir Syndrome Type I

Abstract

Pena-Shokeir syndrome type I is an uncommon disease first reported by Pena & Shokeir in 1974. This disease is characterized by congenital multiple arthrogryposis, characteristic facial anomalies, and pulmonary hypoplasia. Respiratory failure is the main reason for death, usually in the early postnatal period, of patients with this syndrome.We report herein on a case of a 4-month-old girl with Pena-Shokeir syndrome type I who underwent a tracheotomy. Since it was very hard to extend her neck, we performed the tracheotomy by modifying her body position and using a specialized tracheal cannula. She has remained clinically asymptomatic for a year following the tracheotomy.