WBR0315

Author	[[PageAuthor::Ogheneochuko Ajari, MB.BS, MS [1]]]
Exam Type	ExamType::USMLE Step 1
Main Category	MainCategory::Genetics, MainCategory::Pathophysiology
Sub Category	SubCategory::Vascular
Prompt	[[Prompt::A 15-year-old presents to the physician’s office for complaints of abdominal pain. There is no history of trauma to any part of her body. Physical examination reveals delayed femoral pulses, with respect to the brachial pulses and pulsatile vessels, along the axilla and the ribs. Which of the following conditions is the most likely diagnosis for the patient?]]
Answer A	AnswerA::Marfan syndrome
Answer A Explanation	[[AnswerAExp::Marfan syndrome is often associated with dissecting aortic aneurysms and aortic valve incompetence. Marfan syndrome may also be associated with mitral valve prolapse.]]
Answer B	AnswerB::Down syndrome
Answer B Explanation	[[AnswerBExp::Down syndrome is often associated with endocardial cushion defects, which results in atrial septal defect and aortic valve regurgitation.]]
Answer C	AnswerC::Turner syndrome
Answer C Explanation	AnswerCExp::See Explanation.
Answer D	AnswerD::Friedreich's ataxia
Answer D Explanation	[[AnswerDExp::Friedreich’s ataxia, often associated with hypertrophic cardiomyopathy, does not impact the femoral pulses.]]
Answer E	AnswerE::Kartagener syndrome
Answer E Explanation	[[AnswerEExp::Kartagener syndrome, due to a microtubulular dynein arm defect, is associated with situs inversus, but not aortic coarctation. Kartagener syndrome often results in infertility, recurrent sinusitis, and bronchiectasis.]]
Right Answer	RightAnswer::C
Explanation	[[Explanation::Delayed femoral pulses, with respect to the brachial pulses and pulsatile vessels, along the axilla and the ribs of a young patient, are characteristic of an adult type congenital coarctation of the aorta. Turner syndrome, an XO sex-chromosome abnormality resulting from nondisjunction in the sperm cells, is associated with coarctation of the aorta. Educational Objective: Delayed femoral pulses, with respect to the brachial pulses and pulsatile vessels, along the axilla and the ribs of a young patient, are characteristic of an adult type congenital coarctation of the aorta. Turner syndrome, an XO sex-chromosome abnormality resulting from nondisjunction in the sperm cells, is associated with coarctation of the aorta. References: First Aid 2014 page 283 (coarctation of the aorta) ; 574 (Turner Syndrome)]]
Approved	Approved::Yes
Keyword	WBRKeyword::Delayed femoral pulses, WBRKeyword::brachial pulse, WBRKeyword::Pulsatile vessels
Linked Question	Linked::
Order in Linked Questions	LinkedOrder::