Clinical Genetics - General = Connective Tissue Disorders (TRANSFERRED) Flashcards
1
Q
Reference: Genetics residents in-training examination – Fall 2020
A 15 years old male is referred to you by orthopedic surgery for recurrent atraumatic tendon ruptures. He has a past medical history of bilateral hip dysplasia (casted). His family history is significant for his 36 years old mother having a spontaneous coronary dissection 2 years ago and a maternal uncle who passed away suddenly from an abdominal aortic dissection at 37 years old.
A. What is the most likely diagnosis?
B. List 4 things you would you look for on physical examination.
C. What is the detection rate of molecular testing?
A
A. Vascular EDS
B. Bruising Translucent skin Small ears Attached earlobes Thin nose and lips Prominent eyes
C.
95%