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An exceptionally rare syndrome involving head and limbs.

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, dysplastic toenails).

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 32:699, 1980.  [PubMed: 6779104]

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