Long-term vascular access for infants with moderate to severe osteogenesis imperfecta.

Purpose: Osteogenesis imperfecta (OI) is a genetic disorder that causes skeletal fragility. For the most fragile infants and young children with OI, intravenous (IV) bisphosphonate administration is essential, but IV access attempts often cause fractures. Port-a-caths help prevent these events, but some surgeons are hesitant to insert these devices in these infants due to lack of data on their safety.

Cervical kyphosis: A predominant feature of patients with osteogenesis imperfecta type 5.

Objectives: Osteogenesis imperfecta (OI) is a heterogeneous group of genetic disorders of connective tissue that cause skeletal fragility and extra-skeletal manifestations. Classically, four different types of OI were distinguished. Type 5 OI was added due to its distinct clinical and radiographic features.

A moderate form of osteogenesis imperfecta caused by compound heterozygous mutations.

Osteogenesis imperfecta (OI) is a genetic disorder causing skeletal fragility, multiple fractures, and other extraskeletal manifestations. Most cases are caused by mutations in or . Recent investigations have discovered several other autosomal recessive genes responsible for OI.