chapter 64 and 65

Question 1

Amelia

Answer 1

Congenital absence of one or more extremities/limbs

Question 2

Achieropodia:

Answer 2

symmetric absence of the hands and feet

Question 3

Achondroplasia

Answer 3

most common nonlethal skeletal dysplasia. results from decreased endochondral bone formation, which produces short, squat bones.

Question 4

Achondrogenesis

Answer 4

is a rare, lethal skeletal dysplasia. caused by cartilage abnormalities that result in abnormal bone formation and hypomineralization.

Question 5

Camptomelia

Answer 5

Bent bone dysplasia is a group of lethal skeletal dysplasias that are characterized by bowing of the long bones.

Question 6

Clinodactyly-

Answer 6

bent or curved finger

Question 7

Sirenomelia

Answer 7

Is a very rare anomaly in which there is fusion of the lower extremities. Male prevalence.

Question 8

Exstrophy of the Bladder

Answer 8

protrusion of posterior wall of urinary bladder. Bladder is formed external to the abdominal wall.

Question 9

Hydrometrocolops

Answer 9

Obstruction of the uterus and vagina resulting in collections of fluid

Question 10

Hitchhiker thumb-

Answer 10

fixed abducted

Question 11

Micromelia-

Answer 11

shortening of the entire extremity.

Question 12

Osteogenesis Imperfecta

Answer 12

a rare disorder of collagen production leading to brittle bones; manifestations in the teeth, skin, and ligaments; and blue sclera

Question 13

Pyelectasis-

Answer 13

dilation of the renal pelvis without dilation of the calyces

Question 14

Polydactyly

Answer 14

many limbs; 6 fingers

Question 15

Platyspondyly

Answer 15

Flat vertebral bodies

Question 16

Rhizomelia-

Answer 16

Severe micromelia,  especially of the proximal bones
short limbs (long bones).

Question 17

Phocomelia-

Answer 17

bones of the affected limb are either missing or underdeveloped. “Penguin like”

Question 18

Talipes-

Answer 18

club foot

Question 19

Urethral atresia

Answer 19

this condition causes a massively distended bladder (prune belly aka Eagle-Barrett syndrome)

Question 20

VACTERL-

Answer 20

group of anomalies: 
vertebral defects, 
anal atresia, 
cardiac anomalies,
tracheoesophageal fistula, 
renal anomalies, and 
limb dysplasia

Question 21

skeletal dysplasia ?

Answer 21

describes abnormal growth and density of cartilage and bone.

Question 22

thanatos means

Answer 22

death personified; most lethal

Question 23

what are some sonographic features for thanatophoric dysplasia?

Answer 23

severe micromelia
cloverleaf deformation- premature craniosynostosis
narrow thorax with shortened ribs 
hydrocephalus
severe polyhydramnios

Question 24

which is a common nonlethal skeletal dysplasia?

Answer 24

achondroplasia: inherited from 1 parent

Question 25

achondroplasia is caused by ?

Answer 25

cartilage abnormalities that result in abnormal bone formation and hypomineralization.

Question 26

osteogenesis imperfecta is a rare disorder of_____production leading to ____,____, ____?

Answer 26

colleagen production leading to: | brittle bones, blue sclera, and manifestation in teeth, skin, ligaments.

Question 27

camptomelic dysplasia is known as____?

Answer 27

bent bone.

Question 28

jeune's syndrome is known as ___?

Answer 28

asphyxiating thoracic dysplasia.

Question 29

which syndrome is increased frequency in Amish communities ?

Answer 29

Ellis-van Creveld syndrome AKA chondroectodermal dysplasia

Question 30

between which weeks of gestation does the kidney become slightly hyperechoic compared to surrounding tissue?

Answer 30

18 to 20 weeks

Question 31

The bladder wall thickness in a fetus is normally _____ mm.

Answer 31

2mm

Question 32

fetal bladder usually takes ____ min. to fill and empty.

Answer 32

30 minuets

Question 33

fetal bladder and kidneys are seen by ____ weeks of gestation .

Answer 33

13 weeks

Question 34

Normal amniotic fluid volume cannot exclude renal agenesis before _____ weeks' gestation.

Answer 34

14 to 16

Question 35

name the abnormalities of the urinary tract

Answer 35

``` horseshoe kidney cake kidney obstruction double collecting system pelvic kidney polycystic disease ```

Question 36

infant with bilateral renal agenesis exhibit____?

Answer 36

potters facies: - flat nose - recessed chin - abnormal ears - wide-set eyes

Question 37

The most likely cause of bilateral hydronephrosis in the fetus is ____?

Answer 37

bladder outlet obstruction

Question 38

The testes are not visible within the scrotal sac until approximately _____ weeks' gestation.

Answer 38

28 weeks

Question 39

When the fetal kidneys appear enlarged and echogenic, the sonographer should suspect ________ disease.

Answer 39

infantile polycystic disease

Question 40

infantile polycystic kidney disease may occur as part of a genetic syndrome, such as meckel-gruber syndrome or _____.

Answer 40

trisomy 13

Question 41

a fetal ovarian cyst has no diagnostic significance. true or false ?

Answer 41

false

Question 42

The permanent kidneys arise from the _____.

Answer 42

metanephros

Question 43

obstruction of uterus and vagina result in collection of fluid. referred to ?

Answer 43

hydrometrocolpos

Question 44

most common renal tumor is____?

Answer 44

mesoblastic nephroma (harmartoma)

Question 45

A dilated bladder with a "keyhole" appearance is most likely _____?

Answer 45

posterior urethral valve obstruction

Question 46

what is the most common urethral anomaly?

Answer 46

posterior urethral valve obstruction