Clinical Genetics - General = Connective Tissue Disorders (TRANSFERRED)

Question 1

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?

Answer 1

A. Vascular EDS

B. 
Bruising
Translucent skin
Small ears
Attached earlobes
Thin nose and lips
Prominent eyes

C.
95%