Test 4 Part 2

Question 1

how is duodenal atresia characterized?

Answer 1

• stenosis
• atresia
• development of webs that obstruct the distal duodenum

Question 2

what syndrome is associated with duodenal atresia?

Answer 2

trisomy 21

Question 3

what sign is seen with duodenal atresia?

Answer 3

Double Bubble Sign

-dilated stomach and proximal duodenum

Question 4

what is commonly associated with duodenal atresia?

Answer 4

polyhydramnois

Question 5

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

Answer 5

amniocentesis

Question 6

what is esophageal atresia?

Answer 6

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

Question 7

what is esophageal atresia associated with?

Answer 7

• trisomy 21 and 18

- VACTERL association

Question 8

what is the most suggestive sonogrpahic finding for esophageal atresia?

Answer 8

absent stomach

Question 9

where may obstruction of bowel occur?

Answer 9

anywhere along the length of the small or large bowel

Question 10

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

Answer 10

proximal

Question 11

how may bowel obstructions occur?

Answer 11

• malrotation
• atresia
• volvus
• peritoneal bands

Question 12

what may bowel obstruction be isolated or associated with?

Answer 12

• cystic fibrosis
• ascites
• meconium periotonitis
• other anomalies

Question 13

how does bowel obstruction appear as?

Answer 13

dilated loops to the level of obstruction

Question 14

how are proximal bowel obstructions more likely to appear as?

Answer 14

fluid filled

Question 15

what is meconium peritonitis?

Answer 15

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

Question 16

what may meconium peritonitis result in?

Answer 16

inflammatory reaction and formation of a meconium pseudocyst

Question 17

what may be identified in fetuses with meconium peritonitis?

Answer 17

polyhydramnois

Question 18

what may sonogrpahic examination reveal with meconium peritonitis?

Answer 18

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

Question 19

what is fetal ascites?

Answer 19

reult of fluid collection in the fetal abdomen

Question 20

what may fetal ascites be associated with?

Answer 20

• bowel or bladder perforations
• fetal hydrops
• congenital infections
• fetal neoplasms

Question 21

what is the sonographic evaluation of fetal ascites?

Answer 21

show flow outlining the abdominal organs and the fetal bowel

Question 22

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

Answer 22

The hypoechoic muscle adjacent to the fetal skin

Question 23

what is important when locating abdominal cysts?

Answer 23

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

Question 24

many cysts identified in female fetuses are _______ in origin

Answer 24

ovarian

Question 25

what are cystic lesions located in the liver or RUQ?

Answer 25

- choledochal cysts - hepatic cysts - gallbladder duplication

Question 26

what are urachal cysts?

Answer 26

cysts between the bladder and the umbilicus

Question 27

where may duplication cysts be identified?

Answer 27

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

Question 28

what cysts may be identified in abdominal cysts?

Answer 28

- mesenteric - omental - renal - adrenal

Question 29

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

Answer 29

sacrococcygeal teratoma

Question 30

where do sacrococcygeal teratomas arise from?

Answer 30

three germ cell layers (ectoderm, endoderm, mesoderm)

Question 31

are sacrococcygeal teratomas usually benign or malignant?

Answer 31

benign

Question 32

SCT's are usually _______ but may have what?

Answer 32

external tumors but may have intrapelvic extension

Question 33

where may teratomas arise?

Answer 33

anywhere in the fetus, including the liver and brain

Question 34

why is the outcome for sacrococcygeal teratomas generally poor?

Answer 34

because of the development of: - fetal hydrops - cardiac failure - anemia - tumor hemorrhage or rupture - premature delivery from polyhydramnois

Question 35

what are skeletal dysplasia's?

Answer 35

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

Question 36

what are the most common types of skeletal dysplasia?

Answer 36

- thanatophoric dysplasia - achondrogenesis - achondroplasia - osteogenesis imperfecta - short rib-polydactyly syndrome

Question 37

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

Answer 37

chromosomal analysis and genetic testing

Question 38

what are bones evaluated for?

Answer 38

shape and for fractures

Question 39

what should hands and feet be assessed for?

Answer 39

abnormal postruing and polydactyly

Question 40

what manifests with a hitchhickers thumb and SRPS?

Answer 40

diastrophic dysplasia

Question 41

why should the fetal thorax be analyzed for narrowing?

Answer 41

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

Question 42

what factors could lead to a specific diagnosis?

Answer 42

absence or presence of other associated anomalies - facial clefts - hydrocephalus - heart defects

Question 43

what is the most common lethal skeletal dysplasia?

Answer 43

thanatophoric dysplasia

Question 44

what is the outcome for thanatophoric dysplasia?

Answer 44

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

Question 45

which type of thanatophoric dysplasia is more common?

Answer 45

type 1

Question 46

how is type 1 thanatophoric dysplasia classified?

Answer 46

characterized by: - micromelia - curved femurs - narrow thorax

Question 47

how is type 2 thanatophoric dysplasia characterized?

Answer 47

characterized by: - micromelia - straight femora - a narrow thorax - cloverleaf skull

Question 48

what is Achondrogenesis?

Answer 48

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

Question 49

what are the 2 types of Achondrogenesis classified on?

Answer 49

histologic and radiologic characteristics

Question 50

which achondrogenesis is mores severe?

Answer 50

Type 1 (parenti-fraccaro)

Question 51

how is type 1 achondrogenesis classifed?

Answer 51

- severe micromelia - lack of ossification of the spine and calvari - fractured ribs

Question 52

which type of achondrogenesis is more common?

Answer 52

type 2 achondrogenesis (langer-saldino)

Question 53

how is type 2 achondrogenesis charcterized?

Answer 53

- micromelia | - variable ossification of the spine and calvaria

Question 54

what is the most common of the nonlethal skeletal dysplasias?

Answer 54

achondroplasia

Question 55

how does achondroplasia occur?

Answer 55

from abnormal endochondral bone formation that results in rhizomelia

Question 56

what does the fetus look like with achondroplasia?

Answer 56

- large head - prominent forehead - depressed nasal bridge - marked lumbar lordosis

Question 57

what are uncommon complications of achondroplasia?

Answer 57

- brainstem or cervical spinal cord compression - severe hydrocephalus - spinal stenosis

Question 58

how is achondroplasia transmitted?

Answer 58

through an autosomal dominant mode

Question 59

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

Answer 59

homogenous

Question 60

what is short rib-polydactly syndrome (SRPS)?

Answer 60

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

Question 61

what is type 1 of SRPS also known as?

Answer 61

Saldino-Noonan syndrome

Question 62

what is type 2 of SRPS also known as?

Answer 62

Majewski Syndrome

Question 63

what is type 3 of SRPS also known as?

Answer 63

Verma-Naumoff Syndrome

Question 64

what is type 4 of SRPS also known as?

Answer 64

Beemer-Langer Syndrome

Question 65

what does osteogenesis imperfecta lead to?

Answer 65

``` -brittle bones affects the: -teeth -ligaments -skin -blue sclera ```

Question 66

what is type 1 and 4 of osteogenesis imperfecta?

Answer 66

the mildest forms transmitted through autosomal dominant modes of inheritance

Question 67

what is type 3 of osteogenesis imperfecta?

Answer 67

a severe form transmitted throuhh autosomal dominant or recessive modes

Question 68

what is type 2 of osteogenesis imperfecta?

Answer 68

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

Question 69

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

Answer 69

Type 2

Question 70

what does the VACTERL association include?

Answer 70

- vertebral anomalies - anal atresia - cardiac defects - tracheoesphageal fistula - renal anomalies - limbs defects

Question 71

what may be additional findings with VACTERL association?

Answer 71

single umbilical artery and polyhydramnois

Question 72

what is talipes?

Answer 72

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

Question 73

what may talipes be associated with?

Answer 73

- oligohydramnois - chromosomal abnormalities - skeletal dysplasias - other syndromes

Question 74

how is rocket bottom foot identified?

Answer 74

when the bottom of the foot in convex

Question 75

what has rocket bottom foot been associated with?

Answer 75

- syndromes | - chromosomal abnormalities (tri 18)

Question 76

what is polydactyly?

Answer 76

extra digits of the hand and/or feet

Question 77

what is polydactyly associated with?

Answer 77

trisomy 18

Question 78

how is polydactyly presented?

Answer 78

abnormal posturing - clenched hands - overlapping digits

Question 79

what is radial ray defect?

Answer 79

absence or hypoplasia of the radius

Question 80

what is radial ray defect associated with?

Answer 80

- skeletal dysplasia - chromosomal anomalies - syndromes

Question 81

what does the radial ray defect look like?

Answer 81

gives the arm a characteristic clubhand apperance