Præsentation af sygdom

Question 1

HBOC(Heriditary Breast Ovarian Cancer)

Answer 1

a

Question 2

FAP

Answer 2

a

Question 3

MEN1

Answer 3

a

Question 4

MEN2

Answer 4

a

Question 5

Bird Hogg Dube

Answer 5

a

Question 6

PHTS, PTEN Harmatoma Tumor Syndrom

Answer 6

a

Question 7

Huntington’s Chorea

Answer 7

as

Question 8

CMT

Answer 8

a

Question 9

Muscle dystrophy

Answer 9

a

Question 10

Spinocerebellaral ataxia

Answer 10

a

Question 11

Skeletal dysplasia

Answer 11

a

Question 12

Cystic fibrosis

Answer 12

a

Question 13

Marphan’s syndrom

Answer 13

a

Question 14

Ehlers Danlos Syndrom

Answer 14

a

Question 15

Neurofibromatosis Type 1

Answer 15

a

Question 16

Neurofibromatosis Type 2

Answer 16

a

Question 17

Tuberous Sclerosis Complex

Answer 17

a

Question 18

Spielmeyer Fogt Disease

Answer 18

a

Question 19

Heriditary paraplegia

Answer 19

a

Question 20

Dementia

Answer 20

a

Question 21

Noonan Syndrome

Answer 21

a

Question 22

Rasopathies

Answer 22

a

Question 23

Adult Autosomal Dominant Polycystic Renal Disease

Answer 23

a

Question 24

Fragile X syndrome

Answer 24

a

Question 25

22q11 del/dub syndrome

Answer 25

a

Question 26

Haemophilia

Answer 26

a

Question 27

X-bound Ichtyosis

Answer 27

a

Question 28

Epidermolysis Bullosa

Answer 28

a

Question 29

Bullosa diseases

Answer 29

a

Question 30

Down’s syndrome

Answer 30

a

Question 31

Klinefelters Syndrome

Answer 31

Symptomer kan forklares ud fra lav testosteron:
Små testikler
Gynækomasti
Azospermi
Forhøjede LH/FSH
Manglende kropsbehåring
Manglende muskelmasse
Øget højdevækst!

Question 32

Turner Syndrome

Answer 32

Medfødt lymfødem
Lav højde
Infertilitet 
Gonade dysgenesi
Bred thorax og hals 
Venstresidig hjertemisdannelser, fx coarctatio(3-10%)
Normal intelligens 
Dog vanskeligheder med nonverbal kommunikation og de visuospatielle færdigheder