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Genetic malformative disorder characterized by a microstomia; flat midface with a small, pinched mouth mimicking whistling; clubfeet; and contracted muscles of the joints of the fingers and hands malformations.

Freeman-Sheldon Syndrome

Infant with Freeman-Sheldon syndrome showing the typical whistling face, long philtrum, and flat face.

Craniocarpotarsal Disease or Dystrophy; Distal Arthrogryposis Type IIA; Whistling Face Syndrome; Whistling Face-Windmill Vane Hand Syndrome; “Whistler” Syndrome.

Unknown. More than 50 cases have been reported in the literature.

Autosomal dominant inheritance with variable expressivity. No gene has been identified for this condition. No prenatal diagnosis available.

Unknown, but it is thought to involve fibrous replacement of muscles fibers.

Facial features and malformations of limbs are typical. Radiographs of the skull show abnormal appearance of the floor of the anterior cranial fossa. Biopsy of the buccinator muscle reveals fibrous connective tissue. Electromyographic studies show a reduced activity most pronounced in the muscles involved in facial expression.

The facies looks immobile with a flat midface, long philtrum, and puckered mouth with whistling shape to lips. The palate is highly arched; mandible and tongue tend to be small; there is an H or V groove on the chin and deeply set eyes with hypertelorism. Patients present with ulnar deviation (90%) and flexion contracture of fingers (88%) accompanied with adduction of the thumb giving the “windmill vane” appearance. Kyphoscoliosis is present in 85% of cases. Talipes equinovarus is common (60%). Intelligence and lifespan are normal.

Evaluate the airway for difficult tracheal intubation (microstomia). Use of fiberoptic laryngoscope may be required. Evaluate physical status: failure to thrive is common as a result of vomiting and swallowing difficulties. Muscle rigidity following halothane anesthesia has been reported, suggesting the presence of an underlying myopathy. Laboratory data should include blood chemistries, blood group, hemoglobin, and coagulation studies.

Several anesthetic challenges include difficult airway, intravenous cannulation, and the use of regional technique. The presence of facial anomalies is highly suggestive of the potential for difficult airway management. Direct laryngoscopy and tracheal intubation may be difficult, and alternatives (e.g., fiberoptic intubation, Bullard laryngoscope, laryngeal mask) should be considered. Use of a laryngeal mask for a short anesthesia procedure was reported as successful. The suspected underlying myopathy (never proven physiopathologically but suggested following rigidity after halothane anesthesia in a few cases) must not be ignored. The potential for malignant hyperthermia is present because of the myopathic anomaly. Tachycardia, hyperpyrexia, and severe masseter spasm have all been reported. In a few cases, the administration of dantrolene was needed to stop the process. Use of halothane and succinylcholine, as well as other inhalational agents, should not be automatically assumed to be safe in patients with FSS. Individuals presenting with FSS are believed to be at risk for postoperative pulmonary complications ...

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