[MIM 182 250]

(Singleton-Merten dysplasia)

Extremely rare. Autosomal dominant transmission of a mutation of the IFIH1 on 2q24.2

Since the early childhood, association of:

-        dental dysplasia: delayed primary teeth exfoliation and permanent teeth eruption,   severe root and alveolar bone resorption, early onset periodontal disease

-        progressive calcification of the proximal thoracic aorta  with calcification of the aortic or mitral valves

-        osteoporosis: with normal calcium/phosphorus balance

-        febrile crises of unknown origin often followed by generalized muscle weakness

-        widened medullary cavities in the bones of hands and feet (as in some anemias)

-        sometimes: glaucoma, chronic psoriasiform rash, cardiomegaly

-        broad forehead, high anterior hairline, smooth philtrum  with thin vermilion line

Reduced life expectancy: death between 4 and 18 years of age

Anesthetic implications:

echocardiography + chest X-rays; fragile teeth; brittle bones (! positioning).

References : 

-         Feigenbaum A, Muller C, Yale C, Kleinheinz J et al. 
Singleton-Merten syndrome : an autosomal dominant disorder with variable expression. 
AM J Med Genetics 2013; 161: 360-70.

Updated: September 2018