[MIM 166 300]

(MCTO syndrome)

Very rare. Autosomal dominant transmission of a mutation of the MAFB gene on 20q12.

The initial presentation is generally similor to juvenile rheumatoid arthritis (see this topic).
Clinical presentation:

-        progressive destruction of the bones of the carpus and tarsus

-        corneal opacities

-        facial dysmorphism: triangular facies, micrognathism

-        some cases are associated with a nephropathy that progresses to chronic renal failure

A form with autosomal recessive transmission, with osteolysis followed with loss of the distal and middle phalanges, contractures of elbows and knees, short stature, maxillary hypoplasia and relative exophthalmos has been described by Petit and Monica [MIM 259 610 ]

Anesthetic implications:

monitor renal function, risk of difficult intubation

References : 

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

Updated: Dcember 2018