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Autosomal dominant

The Nervous System

• Autosomal dominant
• Mutation in either the PAX3 gene
• Malposition of the eyelid
• Lateral displacement of lacrimal puncta, a broad nasal root, heterochromia of the iris, congenital deafness, and piebaldism, including a white forelock and a triangular area of hypopigmentation.
• Don’t confuse with Wallenberg!

Waardenburg syndrome (WS)

The Nervous System

The Nervous System

Piebaldism

Neural Tube Defects

The Nervous System

Neural Tube Defects

Neuropores fail to fuse by the 4th week of development Ž persistent connection between amniotic cavity and spinal canal. Associated with diabetes and folate deficiency during pregnancy. Increased α-fetoprotein (AFP) in amniotic fluid and serum (except spina bifida occulta = normal AFP).  Increased acetylcholinesterase (AChE) in amniotic fluid is a helpful confirmatory test.

The Nervous System