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Semilobar holoprosencephaly

Case contributed by Ian Bickle
Diagnosis certain

Presentation

Two year-old child, with a history of an abnormal post-natal cranial ultrasound scan.

Patient Data

Age: 2
Gender: Female
mri
  • monoventricle with partially developed occipital and temporal horns, but no frontal horns
  • incomplete falx cerebri
  • incompletely formed interhemispheric fissure, especially anteriorly
  • highly dysplastic corpus callosum

Case Discussion

Semilobar holoprosencephaly is a subtype of holoprosencephaly. It is due to a failure of the midline structures to divide early in the first trimester of pregnancy.

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