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Pediatric and systemic syndromes

Aicardi syndrome

1:457 visual cues2 clinical photos

In this image

Each number marks an object in the image and the finding it stands for.

  1. Eye-cardAicardi syndrome
  2. X armsX-linked dominant inheritance
  3. Girls + robotAlmost exclusively females; Typically lethal in males
  4. MedallionsChorioretinal lacunae; Round or oval depigmented lesions
  5. Missing bridgeAgenesis of the corpus callosum
  6. KeyholeOptic nerve coloboma; Optic-disc abnormalities
  7. Spasming infantInfantile spasms; Completes the classic triad
  8. ReviewEvery marker, in order

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Clinical image credits

Openly licensed photographs used in this lesson, with what was changed.

  1. Sirek Sebastian, Filipek Erita, Wójcik–Niklewska Bogumiła, Pojda-Wilczek Dorota, Mrukwa-Kominek Ewa. Ocular features in Aicardi syndrome: A case report. Figure 1, lacunae crop.

    CC BY 4.0Article

    Exact RGB rectangular crop [0, 0, 800, 600] from original 800 × 1801 image; no enlargement, retouching, new arrows, color adjustment or generative processing. Original markings within crop preserved.

  2. Muacevic Alexander, Adler John R, Bannour Imen, Guerbej Ekram, Abbassi Hafedh, Boughizane Sassi. Fetal Neuroimaging in Aicardi Syndrome: A Case Report and Literature Review. Figure 5, callosal-agenesis crop.

    CC BY 4.0Article

    Exact RGB rectangular crop [0, 0, 750, 789] from original 750 × 789 image; no enlargement, retouching, new arrows, color adjustment or generative processing. Original markings within crop preserved.