The participant was born full term after an uncomplicated pregnancy and birth. Prenatal ultrasounds had raised suspicion of Down syndrome but he was ultimately not diagnosed. At 2 months the participant began to experience difficulty breathing (obstructive and central apnea) and required supplemental oxygen. He underwent surgery to remove his … read more
The participant was born at 39 weeks gestation and was treated in the NICU for 6 days due to low oxygen levels (hypoxia) caused by significant nasal congestion and airway obstruction. The participant’s motor delay was first noticed around 4-6 months old. At 8 months, he was noted to have … read more
The participant was noted to have a brain abnormality (agenesis of the corpus callosum) on a fetal ultrasound. Further testing during the pregnancy was positive for mosaic Turner syndrome. At two days old, the participant began experiencing diarrhea. At 5 weeks old, she was admitted to the hospital for severe … read more
