Chapter 64 Fetal Skeleton

Question 1

There are more than _____ types of skeletal dysplasias.

Answer 1

100

Question 2

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

Answer 2

Two

Question 3

Decreased attenuation of bones with decreased shadowing suggests ___________.

Answer 3

Hypomineralization

Question 4

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

Answer 4

Rhizomelia

Question 5

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

Answer 5

Mesomelia

Question 6

The shortening of the entire extremity ___________.

Answer 6

Micromelia

Question 7

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

Answer 7

Thanatophoric Dysplasia

4,000 to 10,000 Births

Question 8

Type 1 Thanatophoric?

Answer 8

Short, curved femurs and flat vertebral bodies

Question 9

Type 2 Thanatophoric?

Answer 9

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

Question 10

Whats the prognosis for thanatophoric dysplasia?

Answer 10

Very Poor

Question 11

The most common nonleathal skeletal dysplasia?

Answer 11

Achondroplasia

Question 12

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

Answer 12

Endochondral

Question 13

Sonographic findings of the thanatophoric dysplasia

Answer 13

• 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

Question 14

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

Answer 14

Good

Normal

Question 15

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

Answer 15

Lethal

Question 16

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

Answer 16

22 Weeks

Question 17

Sonographic findings of achondroplasia….

Answer 17

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

Question 18

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

Answer 18

Lethal

Cartilage

Question 19

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

Answer 19

Parenti-Fraccaro

Langer-Saldino

Question 20

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

Answer 20

More severe
Rescessive
Less severe

Question 21

The prognosis for achondrogenisis is _____.

Answer 21

Poor

Question 22

Sonographic findings of achondrogenisis…..

Answer 22

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

Question 23

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

Answer 23

Collagen

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

Question 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.

Answer 24

Four
1&4
3
Recessive

Question 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.

Answer 25

2

Question 26

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

Answer 26

Hypomineralization

Question 27

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

Answer 27

Alkaline phosphatase | Lethal

Question 28

Sonographic findings of congenital hypophosphatasia....

Answer 28

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

Question 29

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

Answer 29

``` Micromelia Talipes Clef palate -Micrograthia -Scrolosis Recessive ```

Question 30

The prognosis for diastrophic dysplasia is _________.

Answer 30

Variable

Question 31

Sonographic findings for diastropic dysplasia....

Answer 31

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

Question 32

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

Answer 32

lethal, bowing

Question 33

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

Answer 33

recessive, plaoccmelia and facial anomalies

Question 34

Roberts syndrome is also known as _________

Answer 34

pseudothalidomide syndrome

Question 35

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

Answer 35

short ribs, short limbs, and polydactyly

Question 36

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

Answer 36

four, recessive

Question 37

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

Answer 37

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

Question 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.

Answer 38

norrow, recessive

Question 39

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

Answer 39

chondroectodermal, Amish, recessive

Question 40

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

Answer 40

neural tube

Question 41

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

Answer 41

renal anomalies

Question 42

What does VACTERL stand for?

Answer 42

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

Question 43

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

Answer 43

arthrogryposis multiplex congenita

Question 44

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

Answer 44

Lethal multiple pterygium syndrome.

Question 45

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

Answer 45

pena-shokeir syndrome

Question 46

Pena-shokeir syndrome and _______ have similar features.

Answer 46

trisomy 18

Question 47

Club foot has been associated with exposure to...

Answer 47

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