This form of the disease affects as many as one in sixty thousand people. Type II Osteogenesis Imperfecta can be further subdivided into types IIA, IIB, and IIC on the basis of the radiographic features of the long bones and ribs.
Type IIA demonstrates broad and short long bones with broad and beaded ribs. Type IIB demonstrates broad and short long bones with thin ribs that have little or no beading. Type IIC demonstrates thin and longer long bones with thin and beaded ribs. Patients with type IIA or IIC inevitably die in the prenatal period; rarely, patients with type IIB survive into early childhood.
Some features of Type II Osteogenesis Imperfecta includes ...
Most severe form, autosomal recessive/sporadic.
Abnormal collagen.
These are often diagnosed prenatally at the 20 week ultrasound.
Frequently lethal at or shortly after birth, often due to respiratory problems.
There are crumpled long bones and beaded ribs.
Numerous fractures and severe bone deformity.
Skull is soft and deformed.
Small stature with short limbs & underdeveloped lungs.
Sclera is deep grey-blue or tinted.
Not all infants die immediately with multiple fractures.
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