title: Functional upper airway obstruction in a child with Freeman-Sheldon syndrome.
abstract: Freeman-Sheldon syndrome is defined as a combination of microstomia, deep set eyes, small palpebral fissures, arthrogryposis with ulnar deviation of the hand, talipes equinovarus and generalized muscular hypertension. Respiratory and swallowing problems are frequently encountered in these patients due to small orifices of mouth and nose. Obstruction of the upper airway tract resulting in tracheostomy has only been described twice. The described child manifested the typical dysmorphic features of Freeman-Sheldon syndrome and suffered from serious respiratory distress and swallowing difficulties from birth. The boy died at the age of 7 months after accidental decannulation of the tracheostoma during sleep. He did not show anatomical or histopathological abnormalities in the pharyngeal, laryngeal or tracheal regions. We assume that the only explanation of the repeated obstructive episodes is a functional muscular obstruction.
authors.affiliation: Neonatologische Intensivmedizin, Kinderklinik, Aachen, Deutschland.
authors.forename: Joerg
authors.initials: J
authors.lastname: Schefels
authors.forename: Tobias G
authors.initials: TG
authors.lastname: Wenzl
authors.forename: Ulrich
authors.initials: U
authors.lastname: Merz
authors.forename: Vincent
authors.initials: V
authors.lastname: Ramaekers
authors.forename: Josef
authors.initials: J
authors.lastname: Holzki
authors.forename: Sabine
authors.initials: S
authors.lastname: Rudnik-Schoeneborn
authors.forename: Benita
authors.initials: B
authors.lastname: Hermanns
authors.forename: Helmut
authors.initials: H
authors.lastname: Hörnchen
mesh_terms: D000015:Abnormalities, Multiple; D000402:Airway Obstruction / Q000209:etiology* / Q000601:surgery*; D003025:Clubfoot; D017809:Fatal Outcome; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007223:Infant; D008297:Male; D008865:Microstomia / Q000150:complications*; D009333:Neck / Q000002:abnormalities; D063173:Retrognathia / Q000150:complications*; D013577:Syndrome; D014139:Tracheostomy / Q000295:instrumentation / Q000379:methods