At 7 months, the participant’s parents noticed that she was not sitting or rolling. By 18 months, she was only babbling and crawling on her stomach. At the age of 2, the participant began to have seizures, which were sometimes associated with fevers. Currently the participant attempts to speak, but … 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
At 4 months old, the participant had an episode of extremely high blood pressure (malignant hypertension), which required resuscitation and intubation. He underwent an extensive workup, but a diagnosis was not found. Since then, he has had four other hospitalizations due to high blood pressure. His systolic blood pressures have … read more
