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Sonography > Chapter 64 Fetal Skeleton > Flashcards

Chapter 64 Fetal Skeleton Flashcards

1
Q

There are more than _____ types of skeletal dysplasias.

A

100

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2
Q

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

A

Two

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3
Q

Decreased attenuation of bones with decreased shadowing suggests ___________.

A

Hypomineralization

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4
Q

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

A

Rhizomelia

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5
Q

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

A

Mesomelia

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6
Q

The shortening of the entire extremity ___________.

A

Micromelia

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7
Q

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

A

Thanatophoric Dysplasia

4,000 to 10,000 Births

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8
Q

Type 1 Thanatophoric?

A

Short, curved femurs and flat vertebral bodies

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9
Q

Type 2 Thanatophoric?

A

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

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10
Q

Whats the prognosis for thanatophoric dysplasia?

A

Very Poor

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11
Q

The most common nonleathal skeletal dysplasia?

A

Achondroplasia

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12
Q

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

A

Endochondral

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13
Q

Sonographic findings of the thanatophoric dysplasia

A
  • 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
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14
Q

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

A

Good

Normal

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15
Q

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

A

Lethal

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16
Q

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

A

22 Weeks

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17
Q

Sonographic findings of achondroplasia….

A
  • Rhizomelia
  • Macrocephaly
  • Trident hands
  • Depressed nasal bridge
  • Frontal bossing
  • Mild ventricalomegaly
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18
Q

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

A

Lethal

Cartilage

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19
Q

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

A

Parenti-Fraccaro

Langer-Saldino

20
Q

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

A

More severe
Rescessive
Less severe

21
Q

The prognosis for achondrogenisis is _____.

A

Poor

22
Q

Sonographic findings of achondrogenisis…..

A
  • Severe micromelia
  • Decreased or absent ossification of the spine
  • Macrocephaly
  • Short thorax and short ribs
  • Microgenathia
  • Polyhydramnios
  • Hydrops possibly
23
Q

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

A

Collagen

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

24
Q

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.

A

Four
1&4
3
Recessive

25
Q

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

A

2

26
Q

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

A

Hypomineralization

27
Q

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

A

Alkaline phosphatase

Lethal

28
Q

Sonographic findings of congenital hypophosphatasia….

A
  • Diffuse hypomineralization of the bones
  • Moderate to severe micromelia
  • Extremities that may be bowed, fractured, or absent
  • Poorly ossiticed cranium
  • Small thoracic cavity
29
Q

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

A 
Micromelia
Talipes
Clef palate
-Micrograthia
-Scrolosis
Recessive
30
Q

The prognosis for diastrophic dysplasia is _________.

A

Variable

31
Q

Sonographic findings for diastropic dysplasia….

A
  • Micromelia
  • Talipes
  • Fixed thumb ( Hitch Hiker Thumb)
  • Scoliosis
  • Club foot
  • Micrograthia
  • Cleft palete
32
Q

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

A

lethal, bowing

33
Q

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

A

recessive, plaoccmelia and facial anomalies

34
Q

Roberts syndrome is also known as _________

A

pseudothalidomide syndrome

35
Q

Short-rib plydactyly is a lethal dysplasia characterized by …

A

short ribs, short limbs, and polydactyly

36
Q

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

A

four, recessive

37
Q

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

A

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

38
Q

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.

A

norrow, recessive

39
Q

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

A

chondroectodermal, Amish, recessive

40
Q

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

A

neural tube

41
Q

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

A

renal anomalies

42
Q

What does VACTERL stand for?

A

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

43
Q

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

A

arthrogryposis multiplex congenita

44
Q

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

A

Lethal multiple pterygium syndrome.

45
Q

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

A

pena-shokeir syndrome

46
Q

Pena-shokeir syndrome and _______ have similar features.

A

trisomy 18

47
Q

Club foot has been associated with exposure to…

A

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

Sonography (29 decks)

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