Question

An intrauterine scan at the 13th week of pregnancy showed a fetus with multiple long bone fractures. What is commonly associated with this finding ?

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

Answer 1

The Correct Option is B

In the case of a fetus presenting with multiple long bone fractures evident on an intrauterine scan at the 13th week of pregnancy, the most commonly associated condition is Osteogenesis Imperfecta. This condition is characterized by:

• Genetic Disorder: Osteogenesis Imperfecta is a genetic disorder commonly caused by defects in the genes responsible for collagen production, which is crucial for bone strength and structure.
• Brittle Bones: The disorder leads to bones that fracture easily, sometimes even with minimal or no trauma, which is likely the cause of the multiple long bone fractures observed during the scan.
• Other Symptoms: Besides fractures, individuals with Osteogenesis Imperfecta may exhibit other symptoms such as blue sclera, hearing loss, and dental imperfections.

In contrast, the other conditions provided as options typically do not present with multiple fractures in utero:

• Achondroplasia: Leads to dwarfism due to issues with bone growth, not characterized by frequent fractures.
• Cretinism: Caused by congenital hypothyroidism, affecting physical and mental development, without a specific association with bone fractures.
• Marfan Syndrome: A connective tissue disorder with potential cardiovascular implications, but not typically associated with intrauterine fractures.

Therefore, based on the evidence of multiple long bone fractures in the womb, Osteogenesis Imperfecta is the condition commonly associated with this clinical finding.