What is the ultrasound finding associated with tuberous sclerosis complex (TSC)?

Prepare for the American Board of Genetic Counseling Test. Engage with flashcards and multiple choice questions, each question comes with hints and explanations to enhance your knowledge. Get exam ready!

The ultrasound finding associated with tuberous sclerosis complex (TSC) is a rhabdomyoma. Rhabdomyomas are benign tumors that commonly occur in the heart of individuals with TSC. These tumors can be detected through prenatal ultrasounds, and their presence can be an important indicator of the condition.

Tuberous sclerosis complex is a genetic disorder that leads to the development of various tumors in multiple organs, and rhabdomyomas specifically are predominantly cardiac in nature. Their identification can provide an early clue in the diagnosis of TSC, especially when observed in conjunction with other characteristic findings.

In contrast, the other options mentioned relate to different conditions. The interrupted aortic arch is associated with congenital heart defects but not with TSC. The telephone receiver femur is a feature seen in achondroplasia, and thanatophoric dysplasia is a severe skeletal dysplasia that has its own distinct ultrasound and phenotypic findings. Understanding these distinctions highlights the diagnostic importance of rhabdomyomas in the context of tuberous sclerosis complex.

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy