Skip to content
logo
  • Home
  • Plans packages
  • Dashboard
  • Home
  • Plans packages
  • Dashboard
My Account

A 6-week-old infant presents with microcephaly, postaxial polydactyly, and 2-3 toe syndactyly, along with poor feeding and hypotonia. Cholesterol level is low, and 7-dehydrocholesterol is markedly elevated. Genetic testing identifies a pathogenic mutation in DHCR7. Which syndrome does this likely represent?

All rights reserved