Genetics: Pathology

Question 1

Ehlers-Danlos syndrome is an inherited disease of defective ________ synthesis. Depending on the sub-type of Ehlers-Danlos syndrome, the disease can either be autosomal dominant or recessive. Ehlers-Danlos can be sub-divided into several different types including classic (collagen type _), hypermobility, vascular (collagen type III), kyphoscoliosis, arthrochalasia, and dermatosparaxis Ehlers-Danlos syndrome. The classical form is an _________ ________ disorder characterized by a mutation in collagen type V.

Answer 1

collagen
V
autosomal dominant

Osmosis Notes

Question 2

Symptoms include joint _____________, frequent joint dislocations, thoracolumbar scoliosis, ________________ skin, easy bruising, and atrophic scars. Cardiac and pulmonary conditions, while rare, can occur and include mitral valve prolapse and spontaneous pneumothorax.

Answer 2

hypermobility
hyperextensible

Osmosis Notes

Question 3

These abnormalities are somewhat rare, but mitral valve prolapse and aortic root dilatation are the most common complications, each affecting about 6% of patients with Ehlers-Danlos syndrome. What type of murmur would you expect to hear in a patient with mitral valve prolapse?

Answer 3

Crescendo late systolic murmur with a midsystolic click

Osmosis Notes