Child health- genetic diseases

Question 1

what is Down syndrome caused by

Answer 1

three copies of chromosome 21- trisomy 21

Question 2

clinical features of Down syndrome

Answer 2

hypotonia (< muscle tone)
brachycephaly (small head flat back)
short neck
short stature
distinctive facial features

Question 3

distinctive facial features of down syndrome

Answer 3

prominent tongue
flattened face and nose
prominent epicanthic folds
brushfield spots (white, grey, or brown spots spaced around iris)

Question 4

complications of Down syndrome

Answer 4

develop at different pace
learning disability common
recurrent otitis media
deafness
visual problems
hypothyroidism in 10-20%
cardiac defects in 1/3
GI issues- hirschsprungs disease
leukaemia more common in children with DS
dementia more common in adults with DS

Question 5

clinical features of Prader-Willi syndrome at birth

Answer 5

very floppy
ability to suck weak or absent
tube feeding common

Question 6

clinical features of Prader-Willi syndrome in childhood

Answer 6

hyperplasia (food seeking and lack of satiety)
learning difficulties
Hypogonadism (sex glands produce little/no hormones)
short stature

Question 7

clinical features of barget-biedl syndrome

Answer 7

visual impairment
renal abnormalities
polydactyly (extra fingers/toes)
learning difficulties
hypogonadism
obesity
hyperplasia

Question 8

most common heart defects in patients with down syndrome

Answer 8

atrioventricular septal defect
ventricular septal defect

Question 9

what is Prader-Willi syndrome caused by

Answer 9

loss of function on genes of the paternal copy of chromosome 15

Question 10

what is turners syndrome

Answer 10

genetic condition that only affects females and occurs when one of the X chromosomes is missing or partially missing (45, XO)

Question 11

clinical features of turners syndrome

Answer 11

short stature
lymphoedema of hands and feet in neonate, may persist
spoon-shaped nails
webbed neck
widely spaced nipples
wide carrying angle
congenital heart defects
delayed puberty
infertility
hypothyroidism
recurrent otitis media
normal intellect

Question 12

most common congenital heart defects in turners syndrome

Answer 12

bicuspid aortic valve
coarctation of the aorta

Question 13

investigation for definitive diagnosis of turners syndrome

Answer 13

karyotyping (chromosomal analysis)

Question 14

what is the most common feature of turners syndrome

Answer 14

short stature