Figure 5.
Craniofacial phenotype of three patients with de novo EFTUD2 mutations. (A, B) Patient 6 at the age of 12 months with round face, mildly downslanting palpebral fissures, micrognathia and mild hypoplasia of the upper ear and squared earlobes. (C, D) Patient 6 at the age of 7 4/12 years. Please note that the ears were surgically corrected. (E, F) Patient 7 at the age of 12 months with normal slant of palpebral fissures, microtia and micrognathia. (G, H) Patient 7 at the age of 3.5 years with sloping forehead and microtia affecting the upper part of the ear in particular. (I, J) Patient 8 at the age of 19 months with down-slanting palpebral fissure, microtia with squared earlobes, severe micrognathia and tracheostomy. (K) Patient 8 at the age of 4.5 years. Upslanting palpebral fissures and severe micrognathia are still present.