5
Participants
Start Date
September 30, 2025
Primary Completion Date
September 30, 2027
Study Completion Date
December 31, 2027
Whole Genome Sequencing
Genetic testing will be performed to find variants in genes involving congenital cataract and/or ocular diseases (keratitis, keratoconus, corneal dystrophies, ectopia lentis, glaucoma, retinitis pigmentosa, coloboma and aniridia) and dental anomalies (tooth agenesis, supernumerary teeth, Hutchinson teeth, mulberry molars). Cutaneous appendage anomalies will be also evaluated in clinical history for ascertaining ectodermal diplasia.
Cephalometric tracing
Cephalometric tracing will be performed on lateral cephalometric radiographs if present and not taken on purpose for the study
Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, Pavia
Unit of Orthodontics and Pediatric Dentistry - Section of Dentistry - Department of Clinical, Surgical, Diagnostic and Pediatrics - University of Pavia, Pavia
University of Pavia
OTHER