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Question
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An 8-month-old is noted to have global developmental delay, nystagmus, and appears to have episodes of panting. A magnetic resonance image (MRI) is shown. Which of the following signs is not associated with this condition?
Explanation
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The MRI shows the classic molar tooth sign often seen in Joubert syndrome. This is a condition associated with hypoplasia of the cerebellar vermis, usually inherited in an autosomal-recessive fashion. It is accompanied by breathing abnormalities, including hyperpnea alternating with periods of apnea, limb and truncal ataxia, oculomotor apraxia with nystagmus, and hypotonia. Many other signs and symptoms may also be associated with Joubert syndrome, including kidney and liver abnormalities, distinct facial features (widely spaced eyes, low-set ears, ptosis, broad forehead), polydactyly, and vision abnormalities including retinal dystrophy.
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Reference
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(Bradleys NiCP, 7th edn, Ch. 44, pp. 528572)
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Option 1
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Is Correct (Option 1):
Oculomotor apraxia
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Option 2
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Is Correct (Option 2):
Hypotonia
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Option 3
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Is Correct (Option 3):
Ataxia
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Option 4
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Is Correct (Option 4):
Hemiplegia
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