Osteogenisis Imperfecta

OI is several genetically & clinically heyerogeneous syndromes, characterized by skeletal fragility.

disease characterized by failure of maturation and organization of collagen fibers;

- defect in collagen (procollagen to type I collagen sequence and abnormal cross linking) leading to decreased collagen secretion, bone fragility;

- there may be an inability to form normal bone due to a defect in osteoblastic function

Ability to sit by 10 months of age is a good predictor of future walking ability.

Classification:

Type I:	most common type	autosomal dominant	blue sclerae	fractures during childhood; hearing loss
Type II:	very rare	autosomal recessive	blue scelae	lethal in perinatal period; crumpled long bones; flattened vertebrae
Type III:		autosomal recessive	white sclerae	short stature; fractures and progressive deformity; spinal deformity
Type IV:		autosomal dominant	white sclerae	skeletal fragility; no hearing loss; moderate growth failure

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