An exceptionally rare syndrome involving head and
A single case has been
described. Genetic inheritance has not been determined.
Bipolar disease involving head and neck
(microcephaly, long large ears, microstomia, micrognathia and retrognathia,
broad nose, short philtrum, cleft lip, thin lips, oligodontia) and limbs
(metacarpal abnormalities, triphalangeal thumb, bifid great toe,
brachydactyly, syndactyly [fingers], oligodactyly, foot anomalies,
Anesthesia in this condition has not
been described. However, the features of the disease suggest airway
management most likely will be difficult. Spontaneous ventilation should be
maintained until the airway has been secured. Alternative airway management
techniques, such as fiberoptic intubation or (intubating) laryngeal mask,
should be easily available.
Bonioli E, Sbolgi P, Bernaola E et al: The “Charlie M.” syndrome: A new
clinical entity? Description of a case. Minerva Pediatr