Details

Autor(en) / Beteiligte

• Schefels, Joerg
• Wenzl, Tobias G.
• Merz, Ulrich
• Ramaekers, Vincent
• Holzki, Josef
• Rudnik-Schoeneborn, Sabine
• Hermanns, Benita
• Hörnchen, Helmut

Titel

Functional Upper Airway Obstruction in a Child with Freeman-Sheldon Syndrome

Ist Teil von

• O.R.L. Journal for oto-rhino-laryngology and its related specialties, 2002-01, Vol.64 (1), p.53-56

Ort / Verlag

Basel, Switzerland: Karger

Erscheinungsjahr

2002

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.