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.

Freeman-Sheldon Syndrome and Respiratory Obstruction

“…It is highly associated with OSA, and mortality has been reported secondary to respiratory causes. 3 Tracheostomy has been the traditional therapy in patients with DA 2A who have known severe respiratory obstruction. 2,4 Distraction osteogenesis has recently been used as an alternative to tracheostomy in other infants with severe OSA, such as Robin sequence.…”

“…Salivary gland neoplasms originate from the major or minor salivary glands Minor salivary gland tumors (MSGTs) account for 15% to 25% of all salivary gland neoplasms. 1,3 Most salivary gland tumors are benign, and by far, the most common site is the parotid gland, followed by the submandibular gland and minor salivary glands. 4 The most common location of MSGTs is the oral cavity.…”

Anesthetic management of a patient with Freeman‐Sheldon syndrome

“…(9) reported a 2‐month‐old boy with FSS who died because of atelectasis and bronchitis and Schefels et al. (3) reported a 7‐month‐old boy with FSS who died from upper airway tract obstruction.…”

Tracheostomy Conducted in a Freeman-Sheldon Syndrome Case

“…The face presents deep eyes and small palpebral fissure, inflated cheeks, with external projection of the lips (whistling position), underdeveloped nasal cartilage, narrow nostrils, microstomia and microglossia, which explains the signs of respiratory distress and swallowing problems, promoting the indication of tracheostomy (TCH) [8,10].…”