Figure 1.

Characteristic Craniofacial Dysmorphism in MFDM

The detailed clinical description of these individuals is reported in Table 1. Typical findings include a sloping forehead, malar hypoplasia, micrognathia, a wide mouth, and a characteristic external ear appearance (preauricular tags, microtia, a small superior helix, and a prominent lobe with a square posterior margin). Microtia is variable in severity; some patients have a cupped ear configuration.

(A) Individual 11: birth

(B) Individual 11: 19 months

(C) Individual 8: 8 months

(D) Individual 8: 24 months

(E) Individual 12: 7 years

(F) Individual 3: 6 years, 5 months

(G) Individual 2: 3.5 years (left) and 10.5 years (right)

(H) Individual 9: 13 years, 5 months

(I) Individual 4: 16 years, 8 months