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

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