Dysmorphology Flashcards
measurements
- ht, wt, HC
- arm length, upper body:lower body
- ears, eyes
- chest circumference and inter nipple distance
- palm, finger, foot length
minor malformations
- head/cranial shape and dysmorphic features
- mouth, teeth, palatal shape
- extremity (especially finger and toe) formation
- neck and chest shape
- genitalia malformations
- skin pigmentation, texture changes
- can be seen in general population and do not cause medical problems, but constellation can help us form differential
dysmorphology
refers to visual differences in structural changes in size, shape or placement
malformation
a structural difference that arises from a primary, programmed localized error in morphogenesis
-ex: CHD, polydactyly, cleft in van der Woude
deformation
alteration in shape or structure of a body part that initially differentiated normally; could form normally, but was not able to
-ex: Potter sequence, amniotic bands, twin constraint, Pierre-Robin
disruption
structural defect that results from destruction of a body part that differentiated normally
-ex: amniotic bands
dysplasia
abnormal organizations of cells into tissue as a consequence of a generalized defect in differentiation or growth
-ex: achondroplasia-signaling is off
pes equinovarus
in-turned clubbed feet
pes equinovalgus
out-turned clubbed feet
club feet occurrence
- more common in neurological conditions where innervation fails
- kids born in breach presentation
syndrome
- constellation of findings repeatedly observed in unrelated individuals
- all findings have one underlying cause
dolichocephaly
- thin, narrow head
- normal width
- scaphocephaly is a subtype
sloping forehead with microcephaly
more concerning for underlying brain development
brachycephaly
flattened appearance of head
- common in DS
- plagiocephaly falls into this but is usually due to external factors
epicanthal folds
covering of inner canthi of eyes
-seen in DS, among many other syndromes
inverted epicanthus
inner canthus looks more visible, appears to come from bottom of eye
palpebral fissures
- can be up slanting or down slanting
- in dysmorphology refers to a difference in the expected distance between open eyelids
hypotelorism
shortened inter pupillary distance
hypertelorism
lengthened inter-pupillary distance
telecanthus
lateral displacement of inner canthi; like pseudohypertelorism
tented mouth
often seen with hypotonia
cupid’s bow philtrum
prominence at top of vermillion border
nuchal fold persistence
- excess skin in back of neck
- common in DS, Turner
lower limb edema
- swelling of ankles, feet, legs
- common in Turner
inter nipple distance
measured as a ratio to chest circumference
post-axial
ulnar side
pre-axial
radial side
fisting
associated with Tri13 and Tri18
polydactyly
extra digits
single digital flexion crease
most people have two of these
-