Bone Abstracts

Objectives: Haemophilia A (FVIII deficiency) is an X-linked disorder of haemostasis with bleeding tendency, mainly in joints and muscles. Recurrent haemarthroses, subsequent immobilization and avoidance of contact sports, may affect these patients’ skeletal health.Methods: Evaluation of bone health was performed in 51 children with Haemophilia A (severe: 41, all on prophylaxis treatment), mean age: 11.7±3.6 years. Dual-energy X-Ray absorptiomet...

Background: Mutations in the PLS3 gene, encoding plastin 3, cause X-linked osteoporosis. Osteoporosis is characterized by low bone mineral density (BMD) and increased susceptibility to fractures. Here we describe a 7-year-old boy with osteoporosis due to a novel PLS3 deletion.Presenting problem: The patient, born to non-consanguineous parents, had a history of one low-energy long-bone fracture, three vertebral fractures (T5, T6 T8) and kyphosis. DXA scan...

Background: Mutations in the ENPP1 gene have been identified in individuals with generalized arterial calcification of infancy (GACI), a life-threatening disorder characterized by calcification in the blood vessels, because of reduced availability of pyrophosphate. We describe a case of GACI due to a novel ENPP1 mutation.Presenting problem: The patient, born at term to non-consanguineous parents, was referred to us at birth with weak femoral pulses for e...