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Business Process Mgmt > MSK Pt 2 > Flashcards

MSK Pt 2 Flashcards

1
Q

What are 4 types of skeletal dysplasia? Which one is most common lethal? Which one is not?

A

Thanatophoric dysplasia (most common lethal)
achondrogenesis
ostegenesis imperfecta
achondroplasia (most common nonlethal)

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2
Q

_______________, ______________, and ________________ dwarfism are caused by the different mutations in the fibroblast growth factor receptor 3 gene

A

achondroplasia, hypochondroplasia, and thanotophoric

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3
Q

Achondroplasia:

A

most common nonlethal

autosomal dominant

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4
Q

What can we see with achondroplasia? (9)

A 
rhizomelic shortening
mild limb bowing
exaggerated lumbar lordosis
macrocephaly
trident hands
frontal bossing
mid face hypoplasia
flattened nasal bridge
broad mandible
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5
Q

Which type of SD is lethal within the first 2yrs of life?

A

homozygous achrondroplasia

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6
Q

Heterozygous achondroplasia:

A 
compatible with normal life + intellectual development
rhizomelic shortening
large head + prominent forehead
flattened nasal bridge
spinal kyphosis or lordosis
varus or valgus deformities
ear infections
sleep apnea
hydrocephalus
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7
Q

What is spinal kyphosis vs. lordosis

A

kyphosis- convex curvature (hunchback looking spine)

lordosis- concave curvature (sticking butt out like a try hard looking spine)

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8
Q

What is varus and vagus deformities

A

varus- bowlegged

valgus- knock knee

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9
Q

What GA can we see the shortened limbs/disparity between head size and FL?

A

21-27 wks

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10
Q

What do we see with heterozygous achondroplasia?

A 
macrocephaly
kyphoscoliosis
thoracic dysplasia
polyhydramnios
micromelia
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11
Q

What do we see with thanatophoric dwarfism?

A 
extremely short limbs
extra skin folds
narrow chest
short ribs
underdeveloped lungs
enlarged head w/ large forehead
prominent, wide shaped eyes
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12
Q

What are the 2 types thanatophoric dwarfism?

A

Type I- distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly)
Type II- straight thigh bones and a moderate to severe skull abnormality (cloverleaf skull)

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13
Q

What do we see with thanatophoric dysplasia:

A 
severe micromelia
severe thoracic dysplasia
polyhydramnios
cloverleaf skull 
also: ventriculomegaly, macrocranium, cerebellar hypoplasia, prominent forehead, saddle nose, hypertelorism, short ribs, platyspondyly, bowed legs
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14
Q

What is platyspondyly

A

radiographic feature and refers to flattened vertebral bodies throughout the axial skeleton
most common spinal abnormality in the axial skeleton

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15
Q

What’s a sign of thanatophoric dysplasia? (this was on a slide by itself so ?important)

A

significant narrowing of the chest and prominent abdomen

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16
Q

Achondrogenesis:

A

2nd most common lethal skeletal dysplasia, most severe degree of limb shortening
trident fingers and frontal bossing

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17
Q

Achondrogenesis type I vs. type II

A

type I- inherited autosomal recessive
most severe form. Characterized by: inadequate ossification of the skull, spine + pelvis, extensive shortening of tubular bones, multiple rib fractures
type II- various degrees of calcifications of the pelvis, skull, and spine. Without rib fractures. Mostly sporadic (new autosomal dominant mutations)

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18
Q

What are the characteristics of achondrogenesis type I (9):

A 
autosomal recessive
severe micromelia
thoracic dysplasia
short ribs with multiple fractures
short trunk
macrocrania
focal bone hypomineralization, especially of the spine
calvarium demineralized
polyhydramnios
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19
Q

What are the characteristics of achondrogenesis type II (5):

A

autosomal dominant
lack of mineralization to vertebral bodies, sacrum and ischium
enlarged calvarium w/ normal ossification
shortening of ribs
absence of fractures

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20
Q

What is a useful measurement when looking for achondrogenesis?

A

FL to BPD

often below 5th percentile

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21
Q

Hypophospatasia is an inherited condition that affects:

A

bones + teeth

22
Q

Infants with hypophosphatasia are born with:

A

short limbs, an abnormally shaped chest and soft skull bones

spine is usually hypomineralized whereas with osteogenesis type II, the spine is not affect

23
Q

What two conditions are most commonly associated with hypomineralization of the spine?

A

achondrogenesis type I and hypophosphatasia

skull is not affected with achondrogenesis type I

24
Q

Osteogenesis imperfecta:

A

congenital bone disorder characterized by brittle bones that are prone to fracture

25
Q

What are the two types of osteogenesis imperfecta:

A

Type 1- blue sclera, hyperlaxity of ligaments and skin. Hearing impairment. No prenatal deformities
Type 2- lethal, no ossification of the skull, beaded ribs, shortened and crumpled long bones, multiple fractures, thorax short but not narrow

26
Q

What condition is most commonly associated with fetal fractures?

A

osteogenesis imperfecta

27
Q

Caudal regression syndrome:

A

impairment of the development of the lower half of the body–lower back/limbs/GU and GI tract
bones of lower spine are frequently misshapen or missing (same with corresponding spinal cord)
incomplete closure of spine
breathing problems

28
Q

There’s a lot of shit on this PPT

A

too much info for these cards

29
Q

What are the genital abnormalities seen in females + males with caudal regression?

A

males- urethral opening on underside of penis (hypospadia) + cryptorchidism
females- rectovaginal fistula
*both can lack genitalia all together in severe cases

30
Q

What are the GI abnormalities seen with caudal regression?

A

malrotation of large intestine
imperforated anus
inguinal hernias

31
Q

What are the urinary abnormalities seen with caudal regression?

A

unilateral renal agenesis
horseshoe kidney
ureteral duplication
bladder exstrophy

32
Q

What is sirenomelia?

A

legs are fused together

usually fatal bc of abnormal kidney + bladder developmet

33
Q

What causes sirenomelia?

A

failure of a normal vascular supply from lower aorta in utero

34
Q

Amniotic band syndrome:

A

spectrum of abnormalities which results from entrapment of various fetal parts from a disrupted amnion

35
Q

Radial ray anomaly:

A

large spectrum of upper limb anomalies which range from partial to complete deficiency of the radius w/ or w/o accompanying deficiency of the thumb

36
Q

Polydactyly:

A

foot/hand w/ more than 5 digits

a/w tri-13, Meckel Gruber Syndrome (encephalocele, polydactyly + renal cystic dysplasia)

37
Q

Clinodactyly is what? What is it most a/w?

A

inward curvature of 5th digit of the hand due to hypoplasia of the mid phalanx

tri-21 - 61%

38
Q

Persistently clenched hand with overlapping fingers is a/w?

A 
aneuploidic: 
tri-18 (edwards syndrome)
tri-13 (patau syndrome)
non-aneuploidic:
Pena-Shokei syndrome
Smith-Lemli-Opitz syndrome
39
Q

What is Pena-Shokeir syndrome?

A

autosomal recessive non aneuploidic condition with some clinical features similar to tri18. Lethal

40
Q

What is Smith-Lemli-Opitz syndrome?

A

lack of cholesterol production as well as build up of potentially toxic by-products of cholesterol production which accumulates in the blood and other tissues

41
Q

Trident fingers:

A

short stubby fingers with a separation b/w middle and ring fingers
a/w various chondrodysplasias

42
Q

Syndactyly:

A

congenital fusion of 2 or more digits. Can be soft tissue or bone
tends to affect 3rd + 4th digits

43
Q

Clubfoot:

A

abnormal deviation of the foot in relation to the tib + fib
majority of the cases the sole is turned medially
mostly isolated
can be caused by abnormal bone formation, spina bifida + muscular defects

44
Q

Rocker bottom feet:

A

convex curvature of the pedal arch (like a rocking chair) + is most commonly a/w tri-18

45
Q

Sandal foot:

A

increase in space b/w great toe and second toe
can be normal, but also a soft marker
a/w tri21

46
Q

Which form of achondroplasia is incompatible with normal life?

A

heterozygous

47
Q

Which type of thanatophoric dysplasia is distinguished by curved femurs and a flattened spinal column?

A

type I

48
Q

What condition is likely indicated if you find fractured bones and a region of irregular thickening at the area of the fracture?

A

hypophosphatasia

49
Q

Which type of skeletal dysplasia has the most severe degree of limb shortening?

A

achondrogenesis

50
Q

What skeletal disorder is sometimes referred to as “brittle bone disease/syndrome”?

A

osteogenesis imperfecta

51
Q

Misshapen lower spinal vertebrae and absent spinal cord below L2 would be characteristic of what condition?

A

caudal regression

Business Process Mgmt (30 decks)

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