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abgc boards exam > Dysmorphology > Flashcards

Dysmorphology Flashcards

1
Q

measurements

A
  • ht, wt, HC
  • arm length, upper body:lower body
  • ears, eyes
  • chest circumference and inter nipple distance
  • palm, finger, foot length
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2
Q

minor malformations

A
  • 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
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3
Q

dysmorphology

A

refers to visual differences in structural changes in size, shape or placement

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4
Q

malformation

A

a structural difference that arises from a primary, programmed localized error in morphogenesis
-ex: CHD, polydactyly, cleft in van der Woude

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5
Q

deformation

A

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

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6
Q

disruption

A

structural defect that results from destruction of a body part that differentiated normally
-ex: amniotic bands

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7
Q

dysplasia

A

abnormal organizations of cells into tissue as a consequence of a generalized defect in differentiation or growth
-ex: achondroplasia-signaling is off

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8
Q

pes equinovarus

A

in-turned clubbed feet

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9
Q

pes equinovalgus

A

out-turned clubbed feet

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10
Q

club feet occurrence

A
  • more common in neurological conditions where innervation fails
  • kids born in breach presentation
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11
Q

syndrome

A
  • constellation of findings repeatedly observed in unrelated individuals
  • all findings have one underlying cause
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12
Q

dolichocephaly

A
  • thin, narrow head
  • normal width
  • scaphocephaly is a subtype
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13
Q

sloping forehead with microcephaly

A

more concerning for underlying brain development

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14
Q

brachycephaly

A

flattened appearance of head

  • common in DS
  • plagiocephaly falls into this but is usually due to external factors
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15
Q

epicanthal folds

A

covering of inner canthi of eyes

-seen in DS, among many other syndromes

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16
Q

inverted epicanthus

A

inner canthus looks more visible, appears to come from bottom of eye

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17
Q

palpebral fissures

A
  • can be up slanting or down slanting

- in dysmorphology refers to a difference in the expected distance between open eyelids

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18
Q

hypotelorism

A

shortened inter pupillary distance

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19
Q

hypertelorism

A

lengthened inter-pupillary distance

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20
Q

telecanthus

A

lateral displacement of inner canthi; like pseudohypertelorism

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21
Q

tented mouth

A

often seen with hypotonia

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22
Q

cupid’s bow philtrum

A

prominence at top of vermillion border

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23
Q

nuchal fold persistence

A
  • excess skin in back of neck

- common in DS, Turner

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24
Q

lower limb edema

A
  • swelling of ankles, feet, legs

- common in Turner

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25
Q

inter nipple distance

A

measured as a ratio to chest circumference

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26
Q

post-axial

A

ulnar side

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27
Q

pre-axial

A

radial side

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28
Q

fisting

A

associated with Tri13 and Tri18

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29
Q

polydactyly

A

extra digits

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30
Q

single digital flexion crease

A

most people have two of these

-

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31
Q

clinodactyly

A

inturning, usually refers to fingers

32
Q

dermatoglyphics

A

finger pad patterning that can give info about development

  • arching can be seen with Tri18
  • whorls-rarer and can be seen with SLOS
  • looping
33
Q

Noonan presentation example

A
  • hypertelorism, ptosis, strabismus
  • widely spaced nipples
  • low-set ears
  • short stature
  • ID, DD
  • ASD
  • hypospadius
34
Q

anopthalmia

A

no eyes

35
Q

cryptopthalmia

A

some presence of eye material with abnormal lid formation

36
Q

low set ears

A

fail to bi-sect with the plane of the inner canthus

37
Q

syndactly

A

webbing or fusion of digits

-cutaneous-skin only

38
Q

Frasier syndrome

A
  • AR
  • presents with syndactly and an/cryptopthalmia
  • can also have glomurosclerosis with delayed kidney failure and sometimes GU anomalies especially if 46, XY
39
Q

smaller, thicker, protuberant ears

A

common in 22q11

40
Q

heterochromatic irides

A

-differences in iris color
-often hypo pigmentation
+common in Waardenburg

41
Q

Waardenburg

A
  • caused by mutations of PAX3 (Type 1) and MITF (Type 2)
  • eyes: heterochromia, dystopia canthorum (ONLY type 1)
  • broad, high nasal root with hypoplastic nares
  • hearing loss
  • white forelock, premature graying, partial albinism, synophrys
42
Q

long bone length differentiation

A
  • rhizo-proximal shortening of long bone (humerus, femur)
  • meso-distal long bone shortening (radius, ulnar, tibia, fibula)
  • micro-shortening of all long bones
43
Q

metatropic dysplasia

A
  • most commonly de novo mutations of TRPV4
  • features: epi-and metaphyseal flares, dumbbell long bones, “halberd” appearance in pelvic bones
  • can change over time, leads to scoliosis, breathing insufficiency in neonates
44
Q

supernumerary nipples

A

extra nipples

45
Q

Pallister-Killian

A
  • mosaic iso12p, very rare
  • hypotonia, ID, seizures, motor skill impairment
  • umbilical hernia, polydactyly, hearing loss, micromelia (?)
  • supernumerary nipples, streaks of skin hyper pigmentation may be seen
  • coarse facial features, with a high rounded forehead, a broad nasal bridge with short nose, hypertelorism, low set ears, round cheeks, thin upper lip
  • macroglossia with cleft palate
  • sparse hair with receded hair line
46
Q

anterior fontanelle

A

if not closed by age 2y, it’s concerning

47
Q

failure of neural tube closure

A

leads to anencephaly

48
Q

craniosynostosis

A

premature closure of skull sutures that can be due to bone pathology (primary) or CNS and other pathology (secondary)
-prevalence of 1 in 2500 births-sagittal and coronal most commonly affected

49
Q

Kleeblattschaedel

A

clover leaf skull shape due to craniosynostosis

50
Q

primary CS

A

due to a defect in the suture, nearly all are isolated with only 10-20% being syndromic

51
Q

secondary CS

A

results as a consequence of another disorder, such as CNS anomalies, metabolic disorders, blood diseases

52
Q

CS workup

A
  • Xrays; not usually helpful because bones aren’t calcified enough
  • 3D CT-most helpful in documentation
  • PE +metabolic workup also useful
53
Q

Crouzon genetics

A

-AD mutation in FGFR2 or FGFR3
+relationship with APA
-incidence of 1 in 25000-1 in 50000, so 5% CS

54
Q

Crouzon phenotype

A

-brachycephaly
-midface hypoplasia with hyperteloric exopthalmos
+also see strabismus
-beaked nose with hypo plastic maxilla giving relative prognathism
-cervical spine anomalies, rhizomelia

55
Q

Apert genetics

A

-AD mutation of FGFR2
+APA
-incidence of 1 in 100K-200K, ~1-2% CS

56
Q

FGFR2 CS

A

no genotype phenotype prediction for Apert and Crouzon

57
Q

Apert phenotype

A

-brachy, oxycephaly
-midface hypoplasia, hyperteloric exophthalmos
+strabismus
-button nose
-hypoplastic maxilla giving relative prognathism
-mitten-type syndactyly

58
Q

Pfeiffer genetics

A 
-AD mutation of FGFR1 and FGFR2
\+APA
\+possible modifier genes
-incidence of 1 in 100K, 1-2% CS
-3 subtypes
59
Q

Pfeiffer phenotype

A

-craniosynostosis, broad angulated thumbs and great toes
+increased risk for MCA and early demise in types 2 and 3
-type 1: mild, looks like Crouzon
-type 2: severe, clover leaf skull
-type 3: type 2 without kleeblattschadel

60
Q

Muenke syndrome

A
  • AD mutation of FGFR3
  • incidence of 1 in 30K, 8% CS
  • causes coronal synostosis, macrocephaly, hand or feet anomalies and hearing loss
61
Q

holoprosencephaly and de myer sequence

A

“face predicts the brain” spectrum
-craniofacial and CNS malformation due to impaired midline cleavage of embryonic forebrain
-possible facial features
+cyclopia-ethmocephaly (extreme hypotelorism with blind proboscis)
+cebocephaly (hypotelorism with single nostril-nose)
+premaxillary genesis leading to median cleft of lip and/or palate with hypotelorism
+single central incisor
-brain spectrum
+alobar, semi-lobar, lobar
+pituitary dysfunction with hypopituitarism-least severe brain issues and central incisor

62
Q

cleidocranial dysplasia

A
  • incidence on 1 in 200K (very rare)
  • AD haploinsufficiency of CBFA1 or RUNX2
  • causes hypertelorism, midface hypoplasia
  • failure of anterior fontanelle closure, hypo/aplasia of clavicles and other skeletal anomalies, short stature
  • supernumerary teeth and dental anomalies
  • recurrent otitis media, sometimes hearing loss
63
Q

scalp defect of occiput

A

pathognomonic for Tri13 and women treated with methimazole (hyperthyroidism)

64
Q

cleft defect management

A

-rule out syndromes (glossoptosis, lip pits in case of other management needs)
-cosmetic lip repair in newborn
+rule of 10: lbs, weeks, hematocrit
-special feeding techniques for palatal defect
-ST at 6mo+pre surgical orthodontia if needed
-then surgical palate repair at 10-15mo and hearing assessment
-orthodontia between 1-7y

65
Q

Pierre Robin Malformation sequence

A

-pattern of micrognathia, glossoptosis and a U-shaped cleft due to “imprint of tongue”
-can be isolated or part of a syndrome
-most concerning issue, especially in infants is obstructive apnea that can cause ischemic encephalopathy
+management is a medical emergency

66
Q

cleft lip and palate

A

-occurs in about 600 newborns
+half of cases have both defect, lip alone is less likely
+more likely to be left sided and isolated
-more common in AA and caucasian pops, less likely in Asians and Native Americans
-if isolated RR is 2-4%

67
Q

Van der Woude

A

-AD mutation of IRF6
-can include CL+or-CP
+also see pathognomonic lip pits (88%), adhesion between gums and teeth, hypodontia, ankyloglossia
-CHD can occur

68
Q

hemifacial microsomia

A

-unilateral malformation sequence that affects eye, ear, maxilla and mandible
+if bilateral looks like Treacher-Collins without coloboma
+causes facial nerve palsy, mandibular hypoplasia, clefting, ear anomalies, hearing loss and pre auricular pits or tags
+can additionally see vertebral and radial ray, cardiac, and renal anomalies
-incidence of 1 in 5K-1 in 27K with males and right side more likely to be affected

69
Q

Goldenhar syndrome

A

form of hemifacial microsomia that also effects epibulbar dermoid

70
Q

thanatophoric dysplasia

A

-AD mutations of FGFR3, typically lethal in infancy or prenatally
-tend to have very short limbs with skin folds, enlarged head with prominent eyes and hypertelorism
-narrow chest and short ribs tend to lead to respiratory insufficiency
-Type I distinguishing features
+curved thigh bones and platyspondyly (flattened spinal vertebrae)
-Type II distinguishing features:
+cloverleaf skull

71
Q

achondroplasia

A

-AD mutations of FGFR3
+association with APA
-short stature with rhizomelic limb shortening and bowed legs
-trident hand defect
-frontal bossing with midface hypoplasia and macrocephaly
-main concerns in childhood are for spinal cord compression (stenosis at the foramen magnum) and obstructive sleep apnea

72
Q

diastrophic dysplasia

A

-AR mutations of SLC26A2
-limb shortening and joint contractions, thumb anomalies and ulnar deviation of fingers (hitchhiker thumbs), club foot
-cleft palate, cystic ear swelling (cauliflower ear)
+even with surgeries some anomalies recur
-low muscle tone and advanced bone age

73
Q

hypochondroplasia

A
  • AD mutations of FGFR3
  • short stature with a stocky build
  • rhizo- or mesomelia, brachydactly, limited elbow extension
  • mild joint laxity and adult onset osteoarthritis
  • macrocephaly with mild to moderate ID/LD
  • scoliosis, lumbar lordosis
  • genu varum-inward leg bowing
74
Q

pseudoachondroplasia

A

-AD COMP mutations
+protein involved in cartilage development and conversion to bone
-short stature noticed over time
+proportionate with shortened arms and legs
+usually first picked up due to waddling gain
-joint pain with progression to osteoarthritis and hyper mobility
-“unaffected” head and face
-dysplastic femoral heads with knock-knees and “sway-back”

75
Q

lethality in skeletal dysplasias

A
  • femur length ratio <0.16
  • chest to abdominal circumference ratio is <0.7
  • heart to chest circumference is >50%
76
Q

Ellis van Creveld

A

-AR mutations of “” and ““2 gene
+founder mutations in Old order amish and aboriginal populations
-disproportionate short-limb dwarfism
-post axial polydactyly (mainly of hands)
-ectodermal dysplasia
-small chest with shortened ribs
-characteristic AV canal and venous anomalies, including common atrium

77
Q

OI

A
  • 4 types (1 least severe, 2 most)
  • most commonly mutations of COL1a1, COL1a2
  • brittle bones with frequent fractures and loose joints
  • short stature
  • fragility of skin and blood vessels
  • brittle, fragile teeth
  • wormian bones, or extra bony islands in the skull causing soft cranial vault
  • blue sclera

abgc boards exam (22 decks)

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