Fast Five Quiz: Do You Know Key Signs and Symptoms of Rare Diseases?

Germaine L. Defendi, MD, MS; Emmanuel C. Besa, MD; Michael Stuart Bronze, MD

Disclosures

September 29, 2016

Aicardi syndrome is a genetic malformation syndrome diagnosed almost exclusively in females (46,XX). Genetic inheritance is due to a de novo X-linked dominant mutation. This syndrome is characterized by infantile spasms, total or partial agenesis of the corpus callosum, chorioretinal lacunae, and other ocular abnormalities. Other, less consistent characteristics include dysmorphic facies, cleft lip and palate, and vertebral body abnormalities. Most children have moderate to severe developmental delays.

For more on Aicardi syndrome, read here.

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