genetics in depth from zero to finals Flashcards
physical features of downs syndrome
hypotonia
short neck
short stature
flattened face
single palmar creases
prominent folds covering medial portion of eye and eyelid
complications of downs syndrome
learning disabilities
recurrent otitis media
deafness
hypothyroid
asd,vsd,patent ductus aeteriosus
AML
dementia
physical features of klienfelters
taller height
wider hips
gynaecomastia
reduced libido
infertile
physcial features of turners
short stature
widely spaced nipples
webbed neck
bicuspid aortic valve and coarctation of aorta
delayed puberty
physical features of noonans syndrome
short stature
broad forehead
widely spaced eyes
associated conditions with noonans
pulmonary valve stenosis, hypertrophic cardiomyopathy
fragile x symptoms
long, narrow face
large ears
autism
seizures
large testicles after puberty
adhd
prader will symptoms
constant hunger
hypotonia
hypogonadism
short stature
angel man syndorme
widely spaced teeth
fascination with water
happy demeanour
hand flapping
microcephaly
William syndrome
wide mouth
starburst eyes
supravalvular aortic stenosis
hypercalacaemia
patau syndrome
cleft palate
small head
low set ears
polydactyly
ASD murmur
soft blowing murmur upper chest
VSD
harsh sound murmur at left lower sternal edge
aortic stenosis
harsh, crescendo descendo murmur at right upper border
mitral regurgitation
apex of heart blowing during systolic
murmur heard bwetten scapula
aortic coarctation
continuous machine murmur
patent ductus arteriosus
right to left shunts that cause cyanosis (blood bypasses pulmonary circulation)
ASD,VSD, transposition of great arteries, Patent ductus arteriosus
