Test 4 Part 2 Flashcards

1
Q

how is duodenal atresia characterized?

A
  • stenosis
  • atresia
  • development of webs that obstruct the distal duodenum
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2
Q

what syndrome is associated with duodenal atresia?

A

trisomy 21

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3
Q

what sign is seen with duodenal atresia?

A

Double Bubble Sign

-dilated stomach and proximal duodenum

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4
Q

what is commonly associated with duodenal atresia?

A

polyhydramnois

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5
Q

what is used when duodenal atresia is found to assess for chromosomal anomlaies?

A

amniocentesis

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6
Q

what is esophageal atresia?

A

result of a congenital blockage of the esophagus and may be associated with a fistula connecting the esophagus and trachea

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7
Q

what is esophageal atresia associated with?

A
  • trisomy 21 and 18

- VACTERL association

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8
Q

what is the most suggestive sonogrpahic finding for esophageal atresia?

A

absent stomach

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9
Q

where may obstruction of bowel occur?

A

anywhere along the length of the small or large bowel

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10
Q

the more ______ the level of obstruction, the more likely polyhydramnois will be identified

A

proximal

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11
Q

how may bowel obstructions occur?

A
  • malrotation
  • atresia
  • volvus
  • peritoneal bands
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12
Q

what may bowel obstruction be isolated or associated with?

A
  • cystic fibrosis
  • ascites
  • meconium periotonitis
  • other anomalies
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13
Q

how does bowel obstruction appear as?

A

dilated loops to the level of obstruction

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14
Q

how are proximal bowel obstructions more likely to appear as?

A

fluid filled

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15
Q

what is meconium peritonitis?

A

rare and is a complication in fetuses with perforation of a bowel obstruction

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16
Q

what may meconium peritonitis result in?

A

inflammatory reaction and formation of a meconium pseudocyst

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17
Q

what may be identified in fetuses with meconium peritonitis?

A

polyhydramnois

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18
Q

what may sonogrpahic examination reveal with meconium peritonitis?

A

calcifications in the fetal abdomen on the peritoneal surfaces and in the scrotum in the male fetus

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19
Q

what is fetal ascites?

A

reult of fluid collection in the fetal abdomen

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20
Q

what may fetal ascites be associated with?

A
  • bowel or bladder perforations
  • fetal hydrops
  • congenital infections
  • fetal neoplasms
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21
Q

what is the sonographic evaluation of fetal ascites?

A

show flow outlining the abdominal organs and the fetal bowel

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22
Q

what should not be confused with fluis in the fetal abdomen?

A

The hypoechoic muscle adjacent to the fetal skin

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23
Q

what is important when locating abdominal cysts?

A

sonographic identification of the origin of the cyst and determination of the gender of the fetus

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24
Q

many cysts identified in female fetuses are _______ in origin

A

ovarian

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25
Q

what are cystic lesions located in the liver or RUQ?

A
  • choledochal cysts
  • hepatic cysts
  • gallbladder duplication
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26
Q

what are urachal cysts?

A

cysts between the bladder and the umbilicus

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27
Q

where may duplication cysts be identified?

A

anywhere along the GI tract and may show the muscular layers of gut rather than a thin wall

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28
Q

what cysts may be identified in abdominal cysts?

A
  • mesenteric
  • omental
  • renal
  • adrenal
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29
Q

what is the most common congenital neoplasm with a female-to-male ratio?

A

sacrococcygeal teratoma

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30
Q

where do sacrococcygeal teratomas arise from?

A

three germ cell layers (ectoderm, endoderm, mesoderm)

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31
Q

are sacrococcygeal teratomas usually benign or malignant?

A

benign

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32
Q

SCT’s are usually _______ but may have what?

A

external tumors but may have intrapelvic extension

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33
Q

where may teratomas arise?

A

anywhere in the fetus, including the liver and brain

34
Q

why is the outcome for sacrococcygeal teratomas generally poor?

A

because of the development of:

  • fetal hydrops
  • cardiac failure
  • anemia
  • tumor hemorrhage or rupture
  • premature delivery from polyhydramnois
35
Q

what are skeletal dysplasia’s?

A

rare goup of anomalies that involve abnormal development of bone and cartilage

36
Q

what are the most common types of skeletal dysplasia?

A
  • thanatophoric dysplasia
  • achondrogenesis
  • achondroplasia
  • osteogenesis imperfecta
  • short rib-polydactyly syndrome
37
Q

what may be used to assist in an accurate diagnosis of skeletal dysplasia?

A

chromosomal analysis and genetic testing

38
Q

what are bones evaluated for?

A

shape and for fractures

39
Q

what should hands and feet be assessed for?

A

abnormal postruing and polydactyly

40
Q

what manifests with a hitchhickers thumb and SRPS?

A

diastrophic dysplasia

41
Q

why should the fetal thorax be analyzed for narrowing?

A

associated with pulmonary hypoplasia which is a feature of many lethal skeletal dysplasias

42
Q

what factors could lead to a specific diagnosis?

A

absence or presence of other associated anomalies

  • facial clefts
  • hydrocephalus
  • heart defects
43
Q

what is the most common lethal skeletal dysplasia?

A

thanatophoric dysplasia

44
Q

what is the outcome for thanatophoric dysplasia?

A

infants usually die shortly after birth of pulmonary hypoplasia and respiratory distress

45
Q

which type of thanatophoric dysplasia is more common?

A

type 1

46
Q

how is type 1 thanatophoric dysplasia classified?

A

characterized by:

  • micromelia
  • curved femurs
  • narrow thorax
47
Q

how is type 2 thanatophoric dysplasia characterized?

A

characterized by:

  • micromelia
  • straight femora
  • a narrow thorax
  • cloverleaf skull
48
Q

what is Achondrogenesis?

A

a lethal skeletel dysplasia caused by a defect in cartilage formation that leads to abnormal bone formation and hypomineralization of the bones

49
Q

what are the 2 types of Achondrogenesis classified on?

A

histologic and radiologic characteristics

50
Q

which achondrogenesis is mores severe?

A

Type 1 (parenti-fraccaro)

51
Q

how is type 1 achondrogenesis classifed?

A
  • severe micromelia
  • lack of ossification of the spine and calvari
  • fractured ribs
52
Q

which type of achondrogenesis is more common?

A

type 2 achondrogenesis (langer-saldino)

53
Q

how is type 2 achondrogenesis charcterized?

A
  • micromelia

- variable ossification of the spine and calvaria

54
Q

what is the most common of the nonlethal skeletal dysplasias?

A

achondroplasia

55
Q

how does achondroplasia occur?

A

from abnormal endochondral bone formation that results in rhizomelia

56
Q

what does the fetus look like with achondroplasia?

A
  • large head
  • prominent forehead
  • depressed nasal bridge
  • marked lumbar lordosis
57
Q

what are uncommon complications of achondroplasia?

A
  • brainstem or cervical spinal cord compression
  • severe hydrocephalus
  • spinal stenosis
58
Q

how is achondroplasia transmitted?

A

through an autosomal dominant mode

59
Q

which form of achondroplasia is rare and lethal? (homogenous or heterogenous)

A

homogenous

60
Q

what is short rib-polydactly syndrome (SRPS)?

A

an autosomal recessive skeletal dysplasia characterized by the presence of short limbs and ribs and polyfactlyl

61
Q

what is type 1 of SRPS also known as?

A

Saldino-Noonan syndrome

62
Q

what is type 2 of SRPS also known as?

A

Majewski Syndrome

63
Q

what is type 3 of SRPS also known as?

A

Verma-Naumoff Syndrome

64
Q

what is type 4 of SRPS also known as?

A

Beemer-Langer Syndrome

65
Q

what does osteogenesis imperfecta lead to?

A
-brittle bones
affects the:
-teeth
-ligaments
-skin
-blue sclera
66
Q

what is type 1 and 4 of osteogenesis imperfecta?

A

the mildest forms transmitted through autosomal dominant modes of inheritance

67
Q

what is type 3 of osteogenesis imperfecta?

A

a severe form transmitted throuhh autosomal dominant or recessive modes

68
Q

what is type 2 of osteogenesis imperfecta?

A

the most severe and lethal form transmitted through autosomal dominant or recessive modes or the result of a spontaneous mutation

69
Q

which type of osteogenesis imperfecta is most likely to be diagnosed prenatally?

A

Type 2

70
Q

what does the VACTERL association include?

A
  • vertebral anomalies
  • anal atresia
  • cardiac defects
  • tracheoesphageal fistula
  • renal anomalies
  • limbs defects
71
Q

what may be additional findings with VACTERL association?

A

single umbilical artery and polyhydramnois

72
Q

what is talipes?

A

club foot

  • involves abnormalities of the foot and ankle
  • unilateral or bilateral, and a male prevalence is seen
  • most cases are isolated and idiopathic is seen
73
Q

what may talipes be associated with?

A
  • oligohydramnois
  • chromosomal abnormalities
  • skeletal dysplasias
  • other syndromes
74
Q

how is rocket bottom foot identified?

A

when the bottom of the foot in convex

75
Q

what has rocket bottom foot been associated with?

A
  • syndromes

- chromosomal abnormalities (tri 18)

76
Q

what is polydactyly?

A

extra digits of the hand and/or feet

77
Q

what is polydactyly associated with?

A

trisomy 18

78
Q

how is polydactyly presented?

A

abnormal posturing

  • clenched hands
  • overlapping digits
79
Q

what is radial ray defect?

A

absence or hypoplasia of the radius

80
Q

what is radial ray defect associated with?

A
  • skeletal dysplasia
  • chromosomal anomalies
  • syndromes
81
Q

what does the radial ray defect look like?

A

gives the arm a characteristic clubhand apperance