PMC5437153_01
PMC5437153_02
Pictures depicting AD's development, brain development, and comparison to other children with the same mutation. (A) AD's development in pictures: starting top left: young AD with her sister's "push" to walk. AD is barefoot and her legs turned red from a very short walk. Her muscles in her ankles got tight and she exhibited low muscle tone and needed to be stretched several times a day, or she would suffer excruciating pain at night. The painful day walk and nights were full of crying periods. At the same time, a picture was taken, when she finally could lean against things with her leg braces and at a similar time point. Third picture on the top, AD at her first beauty pageant, after months of her sister and mother teaching her how to spin and dance with a baton ribbon. Fourth picture on the bottom, AD at her eighth birthday, just before her diagnosis and submission to brain scans. AD is successful at attending regular primary schools. Her smile keeps the family and caregivers going. (B) Magnetic resonance imaging results (volumetric T2 performed at 2007 and 2015). (C) Pictures of additional children with ADNP p.Tyr719* mutation (featured also in Table 2 (E), all materials given with parental informed consent).
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PMC5437153_02_fendo-08-00107-g001b.jpg
F1
Craniofacial dysmorphism (prominent forehead, broad nose, and thin upper lip) was apparent on the 2015 scan [Table 1 (A); Figure 1B]. Figure 1C shows representative pictures of three additional ADNP p.Tyr719* children exhibiting potential facial similarities and using standing and walking devices [Table 2 (E)].