Autosomal dominant mutation of MSX1 gene causing tooth and nail syndrome

摘要

Tooth and Nail Syndrome or Nail Dysplasias with Hypodontiaor Witkop´s Syndrome is an autosomal dominant condition present at birth and improves by age. An early diagnosis is essential to avoid future functional, aesthetic, and psychological problems. Here we report two classic cases with brief clinical, radiological and genetic investigation along with a brief review of literature.