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
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
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
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 ...