Week 4 Disease Presentation

Question 1

Diseases presenteted during 4th week

Answer 1

Neurofibromatosis

Autosomal Dominant

Variable Expressivity

1/3000

Marfan Syndrome

Autosomal Dominant

Variable Expressivity and Pleiotropy

1/10000

Question 2

Cause for neurofibromatosis

Answer 2

Gene: 17q11.2 : Neurofibromin tumor suppressor (NF1)

Question 3

Symptoms (2 or more):

6+ Café au Lait spots

Freckles in groin or axillary area

Lisch nodules (pigmented hamartomatous nodular aggregate of dendritic melanocytes affecting the iris)

Optic Glioma

Answer 3

Neurofibromatosis diagnosis

Question 4

Health issues associated with fibroblastomas

Answer 4

Most tumor are benign

Stunned growth

Arteryh stenosis (shrinking)

Difficulty in school

ADD

Question 5

Cause for Marfan Syndrome

Answer 5

Mutation in FBN1 15.q21.1

Encodes a connective tissue protein, fibrillin

Most mutations are missence, and they produce most severe phenotype due to dominant negative effect.

Question 6

Symptoms:

Ocular: myopia, dyslocated lens, early, glaucoma, cataract

Skeletal: dolichostenomelia (long & slender limbs), scoliosis (abnormal spine curving), pectus carinatum (“pigeon chest”), pectus excavatum(“hollow chest”), arachnodactyly (long, slender fingers), joint hypermobility

Cardiovascular: Mitral Valve Prolapse (not closing valve), dialation of aorta,

Answer 6

Marfan Syndrome