Quiz Form

Question Date: 07/08/2023

Question: Parents noticed that their 9 month of infant does not respond to sounds. They brought him to a pediatrician, who noticed white forelock of hair on the infant. Baby had a broad nose, and beautiful blue eyes<br><br>What do you think went wrong during embryogenesis?

Options:

• Abnormal development of neural crest cells
• Abnormal development of neural plate
• Abnormal development of neural tube
• Abnormal optic vesicle

Correct Answer: Abnormal development of neural crest cells

Explaination: Waardenburg syndrome is an autosomal dominantly inherited disorder of neural crest cells. PAX3 protein contains two highly conserved DNA binding domains which play a vital role in the development and differentiation of melanocytes derived from embryonic NC cells.

Reference: Hu, Q. et al. Case Report A Novel PAX3 Mutation Associated With Waardenburg Syndrome Type 1. Frontiers in Genetics 12, (2021).