Aug 18, 2024 · Type II is the most serious form of osteogenesis imperfecta. It causes severe complications, like underdeveloped lungs (due to poor rib cage development), serious bone deformities and multiple broken bones before birth. Babies with type II osteogenesis imperfecta die at or shortly after birth.

A lethal type of osteogenesis imperfecta (OI) characterized by increased bone fragility, low bone mass and susceptibility to bone fractures and presenting with multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density skull on X-ray, and dark sclera.

Osteogenesis imperfecta (OI) is an inherited (genetic) bone disorder that is present at birth. It is also known as brittle bone disease. A child born with OI may have soft bones that break (fracture) easily, bones that are not formed normally, and other problems.

The life expectancy of a person with osteogenesis imperfecta (OI) greatly depends on the type of the disease. In the most severe form of OI called type II or perinatally lethal OI, the baby is born with multiple broken bones.

Osteogenesis imperfecta (OI) is a genetic or heritable disease in which bones fracture (break) easily, often with no obvious cause or minimal injury. OI is also known as brittle bone disease, and the symptoms can range from mild with only a few fractures to …

Type II osteogenesis imperfecta is the most severe form of the disease. The collagen does not form properly. Bones may break even while the fetus is in the womb. Many infants with type II osteogenesis imperfecta do not survive.

The majority of cases of OI type 2–4 in North America and Europe are dominantly inherited and most cases are due to heterozygous COL1A1/2 mutations that result in substitutions for glycine. In general, glycine substitutions near the carboxyl …

Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.

Osteogenesis imperfecta type II (OI2) is a connective tissue disorder characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency (Sillence et …

A lethal type of osteogenesis imperfecta (OI) characterized by increased bone fragility, low bone mass and susceptibility to bone fractures and presenting with multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density skull on X-ray, and dark sclera.