nowyouknowneuro - images Flashcards
1
Q
autosomal-recessive condition
pathology: agenesis of cerebellar vermis, also a/w molar tooth sign midbrain atrophy
clinically: abnormal eye movements with nystagmus, episodes of hyperpnea and apnea, delayed generalized motor development, retinal coloboma and dystrophy and, sometimes, multicystic kidney disease.
A
joubert syndrome