PMC6525357_01
PMC6525357_02
Clinical presentation of the patient. Photographs of the patient at 14 months (a), 17 months (b), and 30 months (c-d). The physical features observed in the patient at these visits included: scaphocephaly, telecanthus, retrognathia, and a few additional dysmorphic features
13039_2019_430_Fig1_HTML.jpg
PMC6525357_02_13039_2019_430_Fig1_HTML.jpg
Fig1
She had striking scaphocephaly, a long face, epicanthal folds and telecanthus, and a frontal upsweep (Fig. 1).