Dictionary of Human Evolution and Biology

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Osteogenesis Imperfecta

Heritable prenatal developmental disease that results in skeletal fragility, osteoporosis, brittle and easily broken bones, blue sclera, poor teeth, and hearing los. The embryonic (congenital) form is usually fatal; a late-appearing (delayed) form is characterized by recurring fractures of the extremities after the first year of life. Caused by a defect in one of the procollagen genes that affects embryonic collagen formation. More than one gene is required to assemble collagen; the various defective genes behave as dominants and recessives. Aka brittle bones.

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