hrp0098p2-38 | Bone, Growth Plate and Mineral Metabolism | ESPE2024
Eduarda Caseiro Alves M
, Cadete Vitoria
, Marques Filipa
, Carneiro Rita
, Farela Neves João
, Galhardo Júlia
Introduction: Kenny-Caffey Syndrome Type 2 (KCS2) is a rare autosomal dominant genetic disorder caused by variants in the FAM111A gene, leading to cortical thickening and medullary stenosis of long bones. It is characterized by primary hypoparathyroidism, electrolyte disturbances, skeletal dysplasia with delayed closure of the anterior fontanelle, hypertelorism, and short stature. Intellectual development is normal.Case Report:</...