Question

Multiple fractures were detected in the antenatal ultrasound scan. What could be the diagnosis?

• A. Achondroplasia
• B. Osteogenesis imperfecta
• C. Marfan syndrome

Hint:

Osteogenesis imperfecta can present with multiple fractures detected during pregnancy, and early diagnosis is essential for managing the condition in the newborn.

Answer 1

The Correct Option is B

The given question involves identifying the correct diagnosis based on an antenatal ultrasound scan showing multiple fractures. Let's analyze each of the possible options to determine the most accurate diagnosis.

1. Achondroplasia: This condition is characterized by a specific type of dwarfism due to abnormal cartilage formation, leading to short stature. It does not typically present with multiple fractures on ultrasound. The primary features include a large head with frontal bossing and short limbs, not fractures.
2. Osteogenesis imperfecta (OI): Known as "brittle bone disease," this genetic disorder is characterized by fragile bones that fracture easily, even with minimal trauma. In severe cases, fractures can occur in utero, and multiple fractures can be seen in an antenatal ultrasound, making it the most likely diagnosis when multiple fractures are detected in the fetus.
3. Marfan syndrome: This disorder primarily affects the connective tissue, leading to features such as tall stature, long limbs, and cardiovascular abnormalities. While Marfan syndrome can cause skeletal abnormalities, multiple fractures are not a typical prenatal finding associated with it.

Based on the characteristics of each condition, the most likely diagnosis for a fetus presenting with multiple fractures detected during an antenatal ultrasound scan is Osteogenesis imperfecta. This conclusion is drawn from the fact that OI is specifically associated with fragile bones prone to fracturing easily, even in utero.

Correct Answer: Osteogenesis imperfecta