A 4-year-old child with blue sclera and a history of multiple fractures with minimal trauma. For the mention disorder, select the serum concentration of calcium (Ca2+) and phosphate (PO4) with which it is most likely to be associated.
Osteogenesis imperfecta (blue sclera, easily broken bones with minimal trauma) is transmitted as an autosomal recessive (severe form) or, more commonly, autosomal dominant (milder form) disorder. The basic defect is an abnormality in the production and composition of the matrix of bone. Serum calcium and phosphate concentrations are normal.
Low PO4, normal Ca
Low PO4, high Ca
Normal PO4, low Ca
Normal PO4, normal Ca
Genetics And Genetic Disorders