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Joubert Syndrome with Orofacial Digital Features.

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  • 1Department of Pediatrics and Physiology, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India.

Journal of Neurosciences in Rural Practice
|February 20, 2018
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Summary

Joubert syndrome (JS) is a rare genetic disorder affecting brain development. Radiological findings are crucial for diagnosing this heterogeneous condition due to its varied clinical presentation.

Keywords:
Cerebellar malformationJoubert syndromeciliopathymagnetic resonance imagingmolar tooth sign

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Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Joubert syndrome (JS) is an autosomal recessive genetic disorder.
  • It is characterized by a distinctive set of clinical features affecting multiple organ systems.

Observation:

  • Key features include hypotonia, cerebellar vermis hypoplasia, and ocular abnormalities like pigmentary retinopathy, oculomotor apraxia, and nystagmus.
  • Renal cysts, hepatic fibrosis, and respiratory abnormalities (apnea, hyperpnea) can also manifest.
  • Intellectual disability is frequently observed in individuals with JS.

Findings:

  • The clinical presentation of Joubert syndrome is highly heterogeneous.
  • Radiological assessment is essential for accurate diagnosis and understanding the spectrum of malformations.

Implications:

  • Identifying specific radiological markers aids in the diagnosis of Joubert syndrome.
  • Understanding the radiological findings is critical for managing patients with this complex disorder.