SYNDROME OF CAMPTODACTYLY, ARTHROPATHY AND COXA VARA (CAC SYNDROME)

Three Saudi children (two female, one male) are described who presente d with familial arthropathy associated with congenital camptodactyly. This rare but recognized clinical entity has a variable clinical prese ntation and may be associated with pericarditis and coxa vara. Camptod actyly was observed in the neonatal period in all patients, while join t swelling was observed between the third and 11th month. Pericarditis was suspected in the referral hospital in one patient but was not sub sequently confirmed at our institution, raising the possibility that p ericarditis may be reversible. Radiological examination of the hips sh owed coxa vara with short femoral neck in all patients. Synovial biops y in the three patients revealed proliferating synovial epithelium wit h moderate fibrocollagenous densities and multinucleated giant cells, occasional lymphocytes or neutrophils but no plasma cells were identif ied. This is the first series of this familial arthropathy with a tria d of camptodactyly, arthropathy and coxa vara (CAC syndrome) in Saudi Arabia which is to be considered in patients where more than one famil y member has juvenile arthritis.