This is a page with links and information on osteogenesis imperfecta type 2 – a disease that is incompatible with life outside the womb, and what caused my sweet little Henry to pass away.
At the bottom are links to a few pictures on what a fetus with OI type 2 looks like (they are not of Henry). Please be warned, some of you may find the images disturbing. Please do not visit the links if this makes you uncomfortable.
From the Centre for Arab Genomic Studies:
“Osteogenesis imperfecta congenita or type II osteogenesis imperfecta is the most severe form of the disease. Affected individuals exhibit short limb dwarfism, thin skin, soft skull, unusually large fontanels (soft spots), blue sclera, whites of the eyes, small nose, low nasal bridge, inguinal hernia and numerous bone fractures at birth. There is bowing of limbs due to multiple fractures. More than 60% of affected infants die on the first day; and 80% die within the first week. Survival beyond one year is exceedingly rare and usually involves intensive support such as continuous assisted ventilation. Death usually results from pulmonary insufficiency related to the small thorax, rib fractures, or flail chest because of lack of stable ribs. Those who survive the first few days of life may not be able to take in sufficient calories because of respiratory distress.”
From the site Medscape, an overview of osteogenesis imperfecta that describes the different types (there are eight), with some x-ray imaging of broken and deformed bones of a type 1 patient (not graphic).
“Osteogenesis imperfecta (OI) is a common heritable disorder of collagen synthesis that results in weak bones that are easily fractured and are often deformed. Several distinct subtypes have been identified, all of which lead to micromelic (short-limbed) dwarfism of varying degree. Depending on severity, the bone fragility may lead to perinatal death or cause severe deformities that persist into adulthood.”
What OI type 2 looks like (some images may be disturbing to some of you. Please don’t visit the links if you are not sure or uncomfortable):
- A newborn with type 2
- The beaded ribs of a type 2 autopsied fetus (graphic – two images – an exposed chest and its accompanying x-ray)
- Sections of femur and spine from a normal and type 2 body, for comparison
- A very young fetus with type 2. This image may be very disturbing to some of you – you’ve been warned. This is similar to what Henry looked like (Henry was a lot smaller, but just as red). This is not Henry. Link jumps directly to a small, red baby with broken and short limbs.