Prenatally the participant was diagnosed with dilated loops of his bowel with a diffusely thickened wall. Prenatal testing for infections (toxoplasmosis, cytomegalovirus) and cystic fibrosis was negative. During the first week of his life, the participant underwent surgery (exploratory laparotomy) to examine his organs and he was found to have a … read more
At 7 months, the participant’s parents noticed that she was not sitting or rolling. By 18 months, she was only babbling and crawling on her stomach. At the age of 2, the participant began to have seizures, which were sometimes associated with fevers. Currently the participant attempts to speak, but … read more
The participant was found to have limited joint movement (arthrogryposis) prenatally. She has required surgery to restore more flexibility to some of her joints. She currently has contractures at her shoulders, elbows and hips. She also has deviated fingers and toes, small thumbs, and rocker bottom feet (bilateral vertical talus). … read more
