4 - Dysmorphic features

Question 1

difference btwn malformation, deformation, disruption, dysplasia

Answer 1

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

Question 2

turricephaly

Answer 2

tall head relative to length and width

Question 3

plagiocephaly

Answer 3

abnl head shape resulting from 1 suture closing early - rest of head is relatively normal shaped with one part being deformed

Question 4

key way to tell if there are epicanthal folds

Answer 4

if caruncle cannot be seen

Question 5

hypo and hypertelorism

Answer 5

hypo - narrowly
hyper - widely
abnly spaced eyes

Question 6

palpebral fissures - how to evaluate

Answer 6

draw line btwn medial canthi. if lateral canthi are above it - upslanting fissues. below - downslanting

Question 7

coloboma

Answer 7

hole in one of the structures of the eye (often iris)

Question 8

low set ears criteria

Answer 8

draw line through medial canthi of eyes - this line should cross at or below superior attachment of ear

Question 9

nl ear rotation

Answer 9

<= 20 deg from vertical

Question 10

ear lobe creases are assoc w/ which genetic syndrome?

Answer 10

Beckwith Wiedemann syndrome

Question 11

which teratogenic exposure is assoc w/ smooth philtrum and thin upper lip?

Answer 11

alcohol

Question 12

preaxial vs postaxial polydactyly - what do they mean and which is more concerning

Answer 12

pre-axial - thumb side
post-axial - pinky side

pre-axial is more concerning

Question 13

camptodactyly

Answer 13

unable to extend digit completely to 180 deg

Question 14

clinodactyly

Answer 14

curved finger

Question 15

ectrodactyly

Answer 15

formerly know as lobster claw, split hand

Question 16

club foot

Answer 16

foot not able to be placed flat on floor