passmed paeds Flashcards
hat does x linked recessive mean
from mother to son
can a man with x linked recessive condition pass to son
no
cyanotic chd presenting within 1st days of life vs 1-2 months
first days- Transposition of great arteries
1-2 months - TOF
Patau syndrome ,chromosome abnormality and features ?
13
polydactyl - extra fingers
low set ears
cleft palate
edwards syndrome , chromosome abnoramlity and features
trisomy 18
micrognathia
low set ears
rocker bottom feet
overlapping of fingers
how does mitochondrial inheritance work
only via the maternal blood line
tx for whooping cough and is it notifiable
azithromycin
yes
first sign of puberty in boys
increase testicular volume
progressive hip pain, limp and stiffness in 6 yr old child would indicate ?
perthes disease
salmon pink rash would indicate ?
juvenile idiopathic arthritis
what is caput succedaneum
puffy swelling that usually occurs overs the presenting part and crosses suture lines
after ventouse delivery
first line tx for threadworms
mebendazole
at what times would you assess apgar score
1 and 5 minutes
differentiating feature of epilepsy vs reflex anoxic seizures
reflex anocix seizures have a rapid recovery
child has outgoing personality , aortic stenosis ?
williamms
how would fragile x present
learning difficulties
macrocephaly
long face
long ears
webbed neck, pectus excavatum and short stature would indicate
noonan syndrome
PULMONARY STENOSIS
CLEFT PALATE, and posterior displacement of tongue
pierre robin syndrome
what screening tool would you use to test a newborns hearing
otoacoustic emission test
osgood schlatter disease occurs due to inflammation and swelling at what joint
tibial tuberosity