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Pediatrics Congenital CNS malformations 04b0c84d

Agenesis of corpus callosum with retinal colobomas and intellectual disability is seen in:

A
Alagille syndrome
B
Aicardi syndrome
C
Ape syndrome
D
Ataxia telangiectasia
High-Yield Explanation
Aicardi syndrome: - Characterized by Agenesis of corpus callosum Retinal colobomas Infantile spasms in girls Intellectual disability Alagille Syndrome- Triangular faces, conjugated jaundice Ape syndrome is a genetic disorder characterized by skeletal abnormalities. A key feature ofApe syndrome is the premature closure of the bones of the skull. Ataxia telangiectasia is a rare childhood disease. It affects the brain and other pas of the body. Ataxia refers to uncoordinated movements during walking. Telangiectasias are enlarged blood vessels (capillaries) just below the surface of the skin.

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