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First Italian experience using the automated craniofacial gestalt analysis on a cohort of pediatric patients with multiple anomaly syndromes.

Giulia PascoliniMauro CalvaniPaola Grammatico
Published in: Italian journal of pediatrics (2022)
The tested tool resulted to be useful in identifying the facial gestalt of a heterogeneous group of syndromic disorders. This study illustrates the first Italian experience with the next generation phenotyping technology, following previous works and providing additional observations.
Keyphrases
  • high throughput
  • machine learning
  • intellectual disability
  • deep learning
  • soft tissue