The participant was born after a pregnancy that was complicated by maternal nausea, urinary tract and ear infections, and anemia. Her birth was uncomplicated, but 8 hours later she began experiencing choking episodes, difficulty breathing, and abnormal movements. The choking episodes continued to occur sporadically over the following months. Imaging … read more
The participant was born at full-term. He was delivered by C-section because he had stopped moving down the birth canal (arrest of descent). At 9 months, his parents become concerned when he was not crawling or pulling up to stand. At 15 months of age, he began interventional therapy with … read more
As an infant, the patient had low muscle tone (hypotonia) and was not meeting developmental milestones. She started wearing hearing aids at the age of 17 months due to hearing loss (sensorineural) and was diagnosed with cataracts at 2 years old. She had one seizure at 6 years old, but … read more
