Which syndrome is characterized by the partial or complete absence of the corpus callosum?

• A. Vitamin D-resistant rickets
• B. Rett syndrome
• C. Aicardi syndrome
• D. Incontinentia pigmenti

Answer: (C)

Aicardi syndrome is indeed characterized by the partial or complete absence of the corpus callosum. This neurological condition primarily affects females and is associated with various developmental and neurological issues. The absence of the corpus callosum can lead to significant challenges in brain function, impacting communication between the two hemispheres of the brain.

In individuals with Aicardi syndrome, other features may include seizures, retinal abnormalities, and developmental delays, further complicating the clinical picture. The occurrence of the agenesis of the corpus callosum in this syndrome is a defining characteristic, setting it apart from the other listed conditions, which do not typically present with this particular brain malformation.

Other syndromes mentioned, while they have their unique phenotypes and genetic implications, do not involve the absence of the corpus callosum as a central feature or diagnostic criterion. Thus, Aicardi syndrome stands as the most fitting answer regarding the presence of this specific neurological trait.