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5. Osteogenesis Imperfecta

Achondroplasia is a genetic disorder with an autosomal dominant pattern of inheritance whose primary feature is dwarfism. Gaucher’s disease is a rare, inherited lipodystrophy in which deficiency of the enzyme glucocerebrosidase results in accumulation of glucocerebroside, throughout the body especially within the bone marrow, spleen and liver. The symptoms and physical findings associated with Gaucher disease vary greatly from patient to patient. Some individuals develop few or no symptoms (asymptomatic); others may have serious complications. Marfan syndrome is an inherited disorder that affects connective tissue, most commonly the heart, eyes, blood vessels and skeleton. People with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers and toes.

Regarding osteogenesis imperfecta, which of the following statements is false?  (Click on the correct answer to be directed to the fourth of seven pages)

1. Genetic mutations affect osteoblast and osteoclasts leading to high bone mineral density and decreased fracture risk
2. Clinical manifestations can include hypermobile joints, hearing loss, tooth discoloration, easy bruising and blue sclera
3. Aortic root dilatation, aortic dissection, heart valve defects and atrial fibrillation are associated with osteogenesis imperfecta
4. The cause of osteogenesis imperfecta is gene mutations, most commonly COL1A1 and COL1A2, affecting the amount of type 1 collagen and/or its structure leading to disorganized collagen matrices affecting osteoid production
5. Osteogenesis imperfecta is present in 1 in 10,000 to 20,000 births.

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