[MIM 174 810]

(McCabe disease)

Very rare. Autosomal dominant transmission of a mutation of the  RANK or TNFRSF11A gene on 18q21.33. This gene is essential for the formation of osteoclasts.

Clinical symptoms:

-        pain and bone deformities as a teenager; risk of pathological fractures

-        early (around the age of 10 years) conductive type deafness that later becomes neurosensory

-        premature loss of teeth

Anesthetic implications:

fragile bones and  teeth; deaf patient

References : 

-         Herd RS, Sprung J, Weingarten TN. 
Primary osteolysis syndromes: beware of difficult airway. 
Pediatr Anesth 2015; 25: 727-37.

Updated: November 2018