Syndromes Flashcards
Hypertelorism is seen in
idiopathic
alpert’s syndrome
Waardenburg syndrome
crouzon syndrome
what are the associated features for NF 1
macrocephaly
short stature
minimal learning difficulties
scoliosis
malignancy
seizure
what are the clinical features of type 2 NF - diagnostic criteria
the diagnosis is maid if the child has the following
1. bilateral acoustic neuroma
2. unilateral acoustic neuroma with first degree relative with NF 2
3. two of the following: neurofibroma, meningioma, glioma, schwannoma, juvenile posterior sub scapular lenticular opacities
is NF 2 associated with cafe au lait spots
yes but no more than 6
what are some conditions associated with cafe au lait spots
NF
tuberous sclerosis
Fanconi anaemia
attic telangiectasia
Russel silver dwarfism
mccune albright
blooms syndrome
gaucher disease
chediak Higashi syndrome
normal varient
causes of calcification on skull X-ray
tuberous sclerosis
AV malformation
sturge weber syndrome
CMV infection
glioma
astrocytoma
craniopharyngioma
down syndrome associated with which heart condition
AV canal defects
patent ductus arteriosus
VSD
turners syndrome is associated with which heart defect
coarctation of the aorta
aortic valve stenosis
noonan syndrome is associated with which heart condition
pulmonary valvular stenosis
peripheral pulmonary stenosis
atrial septal defect
patent ductus arteriosus
cardiomyopathy
what heart condition is marfans syndrome associated with
prolapsed mitral valve
aortic valve incompetence
dissecting aortic aneurysm
what heart condition is William syndrome associated with
supravalvular aortic stenosis
peripheral pulmonary artery stenosis
pulmonary valve stenosis
what heart condition is congenital rubella associated with
patent ductus arteriosus
ventricular septal defect
peripheral pulmonary artery stenosis
what heart condition is ellis van craveld syndrome associated with
ASD
what heart condition is holt Oram syndrome associated with
ASD
VSD
what heart condition is pompe disease associated with
HOCM
