Comprehensive pain management strategy for infants with moderate to severe osteogenesis imperfecta in the perinatal period.

Osteogenesis imperfecta (OI) is a rare genetic heterogeneous disorder that causes increased bone fragility and recurrent fractures. For infants with OI and diffuse fractures, pain management, which is nuanced and specific for this population, is of the utmost importance to their neonatal care. Through experience at our center, we have developed a standard approach that has been successful in optimizing survival for these infants during this tenuous period.

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.