Clinical Sciences

Question 1

Achondroplasia mutation and dominance

Answer 1

FGFR-3

Autosomal dominant

Question 2

Achondroplasia Presentation

Answer 2

short limbs & fingers
large head with frontal bossing
flattened nasal bridge
lumbar lordosis

Question 3

Noonan chromosome and dominance

Answer 3

Ch 12
autosomal dominant

Question 4

Noonan characteristics

Answer 4

webbed neck, widely-spaced nipples, short stature, pectus carinatum and excavatum

cardiac: pulmonary valve stenosis
ptosis
triangular-shaped face
low-set ears
coagulation problems: factor XI deficiency

Question 5

Prader-Willi syndrome mutation

Answer 5

absence of the active Prader-Willi gene on the long arm of chromosome 15

Question 6

Prader Willi presentation

Answer 6

hypotonia
Delayed puberty
Short stature
increased feeding - childhood obesity
Learning difficulties
dysmorphic features - almond eyes, small hands and feet

Question 7

Turners Syndrome mutation

Answer 7

45,XO or 45,X

Question 8

Turners syndrome presentation

Answer 8

short stature
shield chest, widely spaced nipples
webbed neck
bicuspid aortic valve (15%), coarctation of the aorta (5-10%)

Question 9

Williams syndrome mutation

Answer 9

microdeletion on chromosome 7

Question 10

Williams syndrome presentation

Answer 10

learning difficulties
characteristic like affect - very friendly and social
short stature
supravalvular aortic stenosis

Question 11

Williams syndrome diagnosis

Answer 11

FISH studies