Chapter 64 Fetal Skeleton Flashcards Preview

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Flashcards in Chapter 64 Fetal Skeleton Deck (47):
1

There are more than _____ types of skeletal dysplasias.

100

2

A skeletal dysplasia is suspected when limb lengths fall more than _____ standard deviations below the mean.

Two

3

Decreased attenuation of bones with decreased shadowing suggests ___________.

Hypomineralization

4

Shortening of the proximal bone segment (humerus & femur) _________.

Rhizomelia

5

Shortening of the middle segments ( radius/ulna) and (tubia/fibula) __________.

Mesomelia

6

The shortening of the entire extremity ___________.

Micromelia

7

Most common lethal skeletal dysplasia? __________ and occurs in 1 in ___________.

Thanatophoric Dysplasia
4,000 to 10,000 Births

8

Type 1 Thanatophoric?

Short, curved femurs and flat vertebral bodies

9

Type 2 Thanatophoric?

Straight, short femurs, flat vertebral bodies, and a cloverleaf skull

10

Whats the prognosis for thanatophoric dysplasia?

Very Poor

11

The most common nonleathal skeletal dysplasia?

Achondroplasia

12

Achondroplaisa results from decreased __________ bone foundation, which produces short, squat bones.

Endochondral

13

Sonographic findings of the thanatophoric dysplasia

-severemicromelia (especially of the proximal bone)
-cloverleaf deformity ( kteeblattschadal skull)
-Narrow thorax with shortened ribs)
-Protuberant abdomen
-Hypertelorism
-Frontal bossing
-Flat vertebral bodies
-Polyhydramos
-Hydrocephalus
-Nonimmune hydrops

14

With heterozygous achondroplasia inherited from one parent, has a _____ survival rate with ______ intelligence.

Good
Normal

15

Homozygous achondroplasia, inherited from two parents, is considered ______, from respiratory complications.

Lethal

16

The sonographic features of achondroplasia may not be evident until after _________ of gestation.

22 Weeks

17

Sonographic findings of achondroplasia....

-Rhizomelia
-Macrocephaly
-Trident hands
-Depressed nasal bridge
-Frontal bossing
-Mild ventricalomegaly

18

Achondrogenisis is a rare, _____ skeletal dysplasia. It is caused by _______ abnormalities that result in abnormal bone formation and hyperminerilaztion.

Lethal
Cartilage

19

Two types of achondrogenisis are types I (_________) and II (________).

Parenti-Fraccaro
Langer-Saldino

20

Type I achondrogenisis is considered __________ and is transmitted in an autosomal _______ mode, wheras type II is ________, more common, and is a spontaneous mutation.

More severe
Rescessive
Less severe

21

The prognosis for achondrogenisis is _____.

Poor

22

Sonographic findings of achondrogenisis.....

-Severe micromelia
-Decreased or absent ossification of the spine
-Macrocephaly
-Short thorax and short ribs
-Microgenathia
-Polyhydramnios
-Hydrops possibly

23

Osteogenesis imperfecta is a rare disorder of ______ production leading to.....

Collagen
-Brittle bones, teeth, skin and ligaments; and blue sctera

24

Osteogenisis imperfecta has ______ classifications. Types ______ are the mildest and transmitted in an autosomal - ________ fashion. Type _____ is a severe form that maybe transmitted in an autosomal - ________ manner.

Four
1&4
3
Recessive

25

Type ____ osteogenisis imperfecta is the most severe, having a lethal outcome. May be autosomal-dominate or autosomal-recessive or may be a spontaneous mutation.

2

26

In osteogenisis imperfecta the calvarium will be compressible because of _____________. May also have bones that are bowed or rib fracture.

Hypomineralization

27

Congenital hypophosphatasia presents with diffuse hypomineralization of the bone caused by an ____________ deficiency, and its considered a _______ disorder.

Alkaline phosphatase
Lethal

28

Sonographic findings of congenital hypophosphatasia....

-Diffuse hypomineralization of the bones
-Moderate to severe micromelia
-Extremities that may be bowed, fractured, or absent
-Poorly ossiticed cranium
-Small thoracic cavity

29

Diastropic dysplasia is a rare disorder characterized by _________,__________,_________,__________,__________, and is inherited in an autosomal-_______ pattern.

Micromelia
Talipes
Clef palate
-Micrograthia
-Scrolosis
Recessive

30

The prognosis for diastrophic dysplasia is _________.

Variable

31

Sonographic findings for diastropic dysplasia....

-Micromelia
-Talipes
-Fixed thumb ( Hitch Hiker Thumb)
-Scoliosis
-Club foot
-Micrograthia
-Cleft palete

32

Camptomelic dysplasia is a group of rare _____ skeletal dysplasias that are characterized by ______ of the long bones (Tibia and Femur)

lethal, bowing

33

Robert's syndrome is a rare autosomal _______ disorder characterized by ....

recessive, plaoccmelia and facial anomalies

34

Roberts syndrome is also known as _________

pseudothalidomide syndrome

35

Short-rib plydactyly is a lethal dysplasia characterized by ...

short ribs, short limbs, and polydactyly

36

There have been ____ primary types of short-rib polydactyly syndrome, which are inherited in an autosomal-_______ manner.

four, recessive

37

Type 1 is also known as ________
type 2_________
Type 3________
Type 4________

saldino-noonan syndrome
majewski syndrome
naumoff syndrome
beemer-langer Dysolasia

38

Jeune's syndrome also know as asphycicting thoracic dysplasia, is a skeletal dysplasia characterized by a very ______ thorax and is inheritaed in an autosomal- _______manner.

norrow, recessive

39

Ellis-Van Crevald syndrome is also known as ________ dysclasia. With increased frequency in the ____ community. Its is inherited in an autosomal________ pattern.

chondroectodermal, Amish, recessive

40

Cauda regression syndrome (CRS) includes a range of malformations of the caudal end of the _______.

neural tube

41

Sirenomelia (fusion of the lower extremities) is considered a lethal anomaly because of the severe __________ that result in oligohydramnios and pulmonary hypoplasia.

renal anomalies

42

What does VACTERL stand for?

vertebral, anal atresia, cardiac anomalies, tracheoesphogeal fistula, renal anomalies and limb dysplasia

43

Severe contractions of the extremities because of abnormal innervation and disorders of th muscles and connective tissue. May be inherited or sporadic

arthrogryposis multiplex congenita

44

Webbing across the joints and multiple contractures. Inherited autosomal- recessive

Lethal multiple pterygium syndrome.

45

Abnormal joint contractures, facial abnormalities, polyhdramnios , intrauterine growth restriction, and pulmonary hypolasia

pena-shokeir syndrome

46

Pena-shokeir syndrome and _______ have similar features.

trisomy 18

47

Club foot has been associated with exposure to...

tabocurarine, sodium aminepterin, and lead poisoning and associated with oligohydramnios and multiple gestations