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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

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

Figure 1

Current photographs of patients published by Wieczorek et al. [9]. (A, B, C) Patient 1 at the age of 21 years with upslanting palpebral fissures, downward corners of the mouth and microtia. Micrognathia is not present anymore (no surgical correction performed). (D) Patient 2 at the age of 10 9/12 years with upslanting palpebral fissures, micrognathia and microtia with dysplastic upper part of the ear and squared earlobe. The patients and their parents gave informed consent to publish the photographs.

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