ORAL MEDICINE

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Osteogenesis Imperfecta

  • Inherited mutations of collagen genes lead to a number of “brittle bone” diseases characterized by defects in mineralized tissues that form from a collagen-rich matrix.
  • Osteogenesis imperfecta presents a spectrum of deficiencies that includes fragile bones, clear or blue sclera, deafness, loose ligaments, and painful dentinogenesis imperfecta-like changes in the teeth.

 

Cleidocranial Dysplasia

  • The inheritance of a regulatory gene defect in cleidocranial dysplasia leads to features that include delayed tooth eruption, supernumerary teeth, altered or missing collarbones, short stature, and possible failure of cranial suture closure.
  • The exact mechanism of the associated gene,CBFA1, located on chromosome 6, has not been determined but appears to be essential for bone development.

 

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