In elementary school, the participant was found to have bumps under the skin of his arms. These bumps were biopsied and found to be lipomas. At the age of 6, he had rectal bleeding and a colonoscopy showed a large juvenile polyp in the sigmoid colon and a smaller juvenile … read more
During pregnancy, the participant was found to have poor growth (intrauterine growth restriction) and there was more amniotic fluid than normal (polyhydramnios). After birth, he had trouble breathing and low Apgar scores. He was found to have multiple skeletal anomalies (metaphyseal widening, tibial and fibular bowing, cervical spinal canal stenosis) … 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
