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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Joubert Syndrome and related disorders

Figure 2

Schematic approach to the diagnosis and management of JSRD. Left: clinical manifestations that - in variable association - may lead to the diagnostic suspicion of JSRD. Middle: the detection of the MTS by brain magnetic resonance imaging confirms the diagnosis; in a subset of patients, other CNS defects may be identified. Right: proposed evaluation protocol for multiorgan involvement. *by water restriction or Desmopressin test.

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