Figure 1.

Clinical findings in the SLC18A3 patient. (A) Patient at the age of 11 months displaying facial features including high arched palate (not to be seen), hypomimia, both-sided ptosis and club feet (B). Feeding difficulties lead to percutaneous endoscopic gastrostomy (PEG)-tube feeding, and a tracheostoma was placed due to respiratory crises with apnoea. (C) At the age of 5 years, the facial hypomimia and ptosis persisted. Moreover, the patient developed joint contractures in the lower extremities (knee joints) and still needed tracheostoma. (D) Magnetic resonance imaging (MRI) performed at the age of 11 months revealed volume reduction with bitemporal accent.