4 - Dysmorphic features Flashcards
difference btwn malformation, deformation, disruption, dysplasia
malformation - structural defect due to abnl embryonic fetal development
deformation - abnlty caused by physical stress to nl tissue
disruption - alteration of nl forming structures by extrinsic process
dysplasia - abnl development or growth of tissue or cells
turricephaly
tall head relative to length and width
plagiocephaly
abnl head shape resulting from 1 suture closing early - rest of head is relatively normal shaped with one part being deformed
key way to tell if there are epicanthal folds
if caruncle cannot be seen
hypo and hypertelorism
hypo - narrowly
hyper - widely
abnly spaced eyes
palpebral fissures - how to evaluate
draw line btwn medial canthi. if lateral canthi are above it - upslanting fissues. below - downslanting
coloboma
hole in one of the structures of the eye (often iris)
low set ears criteria
draw line through medial canthi of eyes - this line should cross at or below superior attachment of ear
nl ear rotation
<= 20 deg from vertical
ear lobe creases are assoc w/ which genetic syndrome?
Beckwith Wiedemann syndrome
which teratogenic exposure is assoc w/ smooth philtrum and thin upper lip?
alcohol
preaxial vs postaxial polydactyly - what do they mean and which is more concerning
pre-axial - thumb side
post-axial - pinky side
pre-axial is more concerning
camptodactyly
unable to extend digit completely to 180 deg
clinodactyly
curved finger
ectrodactyly
formerly know as lobster claw, split hand
club foot
foot not able to be placed flat on floor
