Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Caused by Truncating Mutations in the Prg4 Gene: Case Series and Literature Review

In the current study, we report three pathogenic PRG4 variants including a novel mutation. We consider that a detailed anamnesis, including kinship and meticulous physical examination of camptodactyly in the absence of inflammatory response, may reveal CACP syndrome masquerading as JIA. The <i>PRG4</i> gene analysis presents the early diagnosis for patients and prenatal counseling and preimplantation genetic diagnosis for carrier families.