The participant was born with absent shoulder muscles (congenital bilateral absence of deltoid muscles), bilaterally underdeveloped bicep tendons, umbilical and inguinal hernias, and undescended testes (bilateral cryptorchidism), some of which were fixed with surgeries. Developmental delay was noted at 6 months old with delayed milestones. He had an IEP in … read more
The participant’s parents first became concerned about her development at 18 months when they noticed that she had not started talking or walking independently. The participant continued to be delayed in meeting developmental milestones throughout her childhood. Between 18 months and 3 years, she also developed rigid and obsessive-compulsive behavior … read more
The patient was born with heart defects (atrial septal defect, ventricular septal defect) and a cleft palate. Shortly after birth, he was noticed to have different facial features, including a triangular face, eye folds (epicanthal folds), decreased creases on his hands and feet, and three bones in his thumbs instead … read more
