A and B) Facial features: blepharophimosis, ptosis, hypertelorism, bulbous nose, and mild retrognathia. C) Limitations in thumb abduction. D) Long toes in both feet.

Context in source publication

Context 1

... (poor vocabulary and comprehension). He weighed 38 kg and was 140 cm tall (97th percentile). He also presented several dysmorphic features: blepharophimosis, ptosis, hypertelorism, bulbous nose, mild retrognathia, limited ability to separate the fingers in both hands, mild limitations on complete extension of the knees, and long toes on both feet (Fig. 1). Array testing and sequencing of the PTEN and NSD1 genes yielded normal findings. A brain MRI scan showed no ...