ch 37 box 37.2: clinical manifestations of down syndrome Flashcards
EXAM 2 content
1
Q
what are the head & eye manifestations of down syndrome?
A
- separated sagittal suture
- brachycephaly
- rounded & small skull
- flat occiput
- enlarged anterior fontanel
- oblique palpebral fissures: upward & outward slant
- inner epicanthal folds
- speckling of iris: brushfield spots
2
Q
what are the nose & ears manifestations?
A
- small nose
- depressed nasal bridge: saddle nose
- small ears & narrow canals
- short pinna: vertical ear length
- overlapping upper helices
- conductive hearing loss
3
Q
what are the mouth & neck manifestations?
A
- high, arched, narrow palate
- protruding tongue
- hypoplastic mandible
- delayed teeth eruption & microdontia
- abnormal teeth alignment common
- periodontal disease
- neck skin excess & laxity
- short & broad neck
4
Q
what are the chest & heart manifestations?
A
- shortened rib cage
- 12th rib anomalies
- pectus excavatum or carinatum
- congenital heart defects: atrial septal defect & ventricular septal defect
5
Q
what are the abdomen & genitalia manifestations?
A
- protruding, lax & flabby abdominal muscles
- diastasis recti abdominis
- umbilical hernia
- small penis
- cryptorchidism
- bulbous vulva
6
Q
what are the hands & feet manifestations?
A
- broad, short hands & stubby fingers
- incurved little finger: clinodactyly
- transverse palmar crease
- wide space between big & second toes
- planta crease between big & second toes
- broad, short feet & stubby toes
7
Q
what are the musculoskeletal & skin manifestations?
A
- short stature
- hyperflexibility & muscle weakness
- hypotonia
-atlantoaxial instability
-dry, cracked, & frequent fissuring - cutis marmorata: mottling
8
Q
what are some other manifestations of down syndrome?
A
- reduced birth weight
- learning difficulty (avg IQ of 50)
- hypothyroidism
- impaired immune function
- increased risk for leukemia
- early onset of dementia in 1/3
