Early in life, the participant began to show signs of motor delay. She sat and crawled at 10 months and walked at 16 months. She also had significant language delays, especially with expressive language. At age 4, she was only able to say “mom.” Around this time, she also started … 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
The participant was born prematurely at 33 weeks after she was diagnosed with IUGR at 27 weeks. She had a gap between her larynx and esophagus (laryngeal cleft) which was later repaired. During infancy, she experienced episodes of retching and choking, which lead to low blood oxygen levels and occasionally … read more
