Multiple fractures were detected in the antenatal ultrasound scan. What could
be the diagnosis?
A. Achondroplasia
B. Osteogenesis imperfecta
C. Marfan syndrome
D. Cretinism
Answer. B
Solution. Multiple fractures detected in an antenatal ultrasound scan could indicate a diagnosis
of Osteogenesis Imperfecta, also known as “brittle bone disease.” It is an inherited disorder
characterized by bones that break easily, often from mild trauma or with no apparent cause.
Achondroplasia is a genetic condition that results in dwarfism and affects the development of
bones, but it would not typically cause fractures in utero. Marfan syndrome is a genetic disorder
that affects the connective tissue in the body and can result in issues with the heart, blood
vessels, and bones, but it would not typically cause fractures in utero. Cretinism is a condition
that results from a lack of thyroid hormones and can cause stunted growth and intellectual
disability, but it would not typically cause fractures in utero.