Around 5 months old, the participant was noticed to have low muscle tone (hypotonia), developmental delays, and difficulty growing (failure to thrive). He also had respiratory failure due in part to compression of his left mainstem bronchus by his aorta, which was corrected with surgery. During his first year of … read more
At age 5, the participant underwent a procedure to ease the symptoms of her brain abnormality (Arnold-Chiari type I malformation). She was later found to have a fluid-filled cyst in her spinal cord (syrinx), which has caused back pain. She was also noted to have delayed speech and motor development … read more
Participant was born prematurely at 30 weeks 5 days. She was born with restricted growth (IUGR), finger anomalies including right thumb hypoplasia (seen in mosaic trisomy 4), and a congenital heart defect (moderated VSD). She was noted to have skull abnormalities (metopic craniosynostosis, plagiocephaly). She also has some differences in … read more
