Prémio Bone Dysplasias

Prémio Bone Dysplasias 2026

Foi atríbuido o Prémio Bone Dysplasias 2026 ao trabalho “Phenotypic Spectrum Associated with Variants in the COL2A1 Gene: a Retrospective Study of Cases Diagnosed at Two Hospitals”, de Katerine Torres.

Foram também atribuídas cinco Menções Honrosas aos trabalhos:

  • NPR2-related Short Stature from a Tertiary Center: Phenotypic Spectrum with Focus on Monoallelic Cases“, de Leandro Augusto Silva;
  • Osteogenesis Imperfecta Diagnosed After an Apparent Isolated Femoral Fracture in a Newborn: Could We Have Done Better?“, de Simão Pinho;
  • Same Name, Different Disease: Genotype-Phenotype Correlations in Adult Patients with Multiple Epiphyseal Dysplasia in a Tertiary Centre“, de Sara Alves Costa;
  • From Brachydactyly to Symphalangism: Exploring Genotype–Phenotype Correlations in GDF5- and NOG-Related Digital Malformations“, de Ariana C.Mendes;
  • e “Acromesomelic Dysplasia, Maroteaux Type: Clinical and Molecular Characterisation of Three Cases“, de Mafalda Saraiva Santos;

EDIÇÃO DE 2024!

Prémio Bone Dysplasias 2024

Foi atríbuido o Prémio Bone Dysplasias 2024 ao trabalho “Skeletal Dysplasia: Looking at the right angle?”, de Emanuel Homem.

Foram também atribuídas duas Menções Honrosas aos trabalhos “A shrouded case of autosomal recessive osteopetrosis requiring emergent care“, de Isabel Serra Nunes e “IHH-related short stature: clinical and molecular characterization of six Portuguese families“, de Inês Barros Ruas