When the participant was 2 days old, she was found to be arching backwards. It was suspected that she was having a seizure, but follow-up testing was normal. She has not had any seizure-like episodes since. Early in life, she was also found to have hearing loss (sensorineural hearing impairment) … read more
The patient was born with a heart defect (patent foramen ovale), two ureters connected to the left kidney instead of one (renal duplication), a small head size (microcephaly), low thyroid hormone production (congenital hypothyroidism), a small jaw (micrognathia), an abdominal wall defect (omphalocele), and a narrowing of the anal canal … read more
The patient was born at 41.5 weeks and immediately had breathing difficulties. She was in the neonatal intensive care unit (NICU) for 5 months and required mechanical ventilation, a tracheostomy, Nissen fundoplication, and a gastrostomy tube (g-tube). The tracheostomy and g-tube were removed at age 4 and 5 years, respectively. … read more
