Skip to main content
Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

From: Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

Figure 3

Update of the craniofacial phenotype of the two sisters with oto-facial syndrome. (A, B) Elder sister at the age of 18 years with receding forehead, large nose and mouth, bilateral microtia with hypoplasia especially of the upper part of the ear with squared earlobe. (C, D) Younger sister at the age of 12 years with similar, but milder craniofacial dysmorphism.

Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172