Figure 1.

Clinical features in patient 1. A and B, Proband at age 10.5 mo. Note flat, mildly coarse facies, epicanthal folds, and low nasal bridge; excessive nasal discharge; difficulty sitting without support; and mild axial hypotonia. C and D, Proband at age 4 years. The patient is considerably improved, with significant neuromotor progress. Note accidental scar on nose, absence of facial coarsening, and no limitation of motion in any joints.