Mietens Syndrome

Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.

Epidemiology

To date, only nine cases have been reported.

Clinical description

Ocular findings are striking. Dysmorphic features are not characteristic except for a small pinched nose and a depressed nasal root. Intellectual deficit and growth delay are observed in the majority of patients.

Genetic counseling

An autosomal recessive pattern of inheritance is probable.