At 3 months, the participant’s parents noticed that she was not yet rolling over. Around 4.5 months, she started vomiting every two or three days. Soon after, she was noticed to have frequent and unusual head movements. During these episodes, she would move her head from side to side and … read more
At birth, these patients were found to have cleft palate, which required surgery to repair. Shortly after, they were noticed to have very low muscle tone (hypotonia) in the arms and neck. The younger sister has increased muscle tone in her legs and wears braces at night on both ankles … read more
At birth, the participant was noticed to have folded ears (overfolding of the superior helices) and eye abnormalities (retinal coloboma, microphthalmia, strabismus). At 3 months, she began to experience seizures (infantile spasms). Although a ketogenic diet helped the participant become seizure-free for 5 years, the seizures (generalized tonic-clonic, generalized myoclonic, … read more
