PHACEs Syndrome
Neurocutaneous syndromes
Posterior fossa malformations
Eye abnormalities
Posterior fossa malformations
- Dandy-Walker malformation: large posterior fossa cyst that is continuous with the fourth ventricle and defective development of the cerebellum, including partial or complete absence of the vermis
- Others: hypoplasia or agenesis of the cerebellum, cerebellar vermis, corpus callosum, cerebrum, and septum pellucidum
- Large facial, ipsilateral to aortic arch
- aplasia or hypoplastic carotid arteries, aneurysmal carotid dilation, aberrant left subclavian artery
Eye abnormalities
- glaucoma, cataracts, microphthalmia, optic nerve hypoplasia