chapter 64 and 65 Flashcards

1
Q

Amelia

A

Congenital absence of one or more extremities/limbs

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2
Q

Achieropodia:

A

symmetric absence of the hands and feet

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3
Q

Achondroplasia

A

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

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4
Q

Achondrogenesis

A

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

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5
Q

Camptomelia

A

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

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6
Q

Clinodactyly-

A

bent or curved finger

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7
Q

Sirenomelia

A

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

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8
Q

Exstrophy of the Bladder

A

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

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9
Q

Hydrometrocolops

A

Obstruction of the uterus and vagina resulting in collections of fluid

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10
Q

Hitchhiker thumb-

A

fixed abducted

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11
Q

Micromelia-

A

shortening of the entire extremity.

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12
Q

Osteogenesis Imperfecta

A

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

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13
Q

Pyelectasis-

A

dilation of the renal pelvis without dilation of the calyces

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14
Q

Polydactyly

A

many limbs; 6 fingers

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15
Q

Platyspondyly

A

Flat vertebral bodies

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16
Q

Rhizomelia-

A
Severe micromelia,  especially of the proximal bones
short limbs (long bones).
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17
Q

Phocomelia-

A

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

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18
Q

Talipes-

A

club foot

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19
Q

Urethral atresia

A

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

20
Q

VACTERL-

A
group of anomalies: 
vertebral defects, 
anal atresia, 
cardiac anomalies,
tracheoesophageal fistula, 
renal anomalies, and 
limb dysplasia
21
Q

skeletal dysplasia ?

A

describes abnormal growth and density of cartilage and bone.

22
Q

thanatos means

A

death personified; most lethal

23
Q

what are some sonographic features for thanatophoric dysplasia?

A
severe micromelia
cloverleaf deformation- premature craniosynostosis
narrow thorax with shortened ribs 
hydrocephalus
severe polyhydramnios
24
Q

which is a common nonlethal skeletal dysplasia?

A

achondroplasia: inherited from 1 parent

25
Q

achondroplasia is caused by ?

A

cartilage abnormalities that result in abnormal bone formation and hypomineralization.

26
Q

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

A

colleagen production leading to:

brittle bones, blue sclera, and manifestation in teeth, skin, ligaments.

27
Q

camptomelic dysplasia is known as____?

A

bent bone.

28
Q

jeune’s syndrome is known as ___?

A

asphyxiating thoracic dysplasia.

29
Q

which syndrome is increased frequency in Amish communities ?

A

Ellis-van Creveld syndrome AKA chondroectodermal dysplasia

30
Q

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

A

18 to 20 weeks

31
Q

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

A

2mm

32
Q

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

A

30 minuets

33
Q

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

A

13 weeks

34
Q

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

A

14 to 16

35
Q

name the abnormalities of the urinary tract

A
horseshoe kidney
cake kidney
obstruction 
double collecting system 
pelvic kidney
polycystic disease
36
Q

infant with bilateral renal agenesis exhibit____?

A

potters facies:

  • flat nose
  • recessed chin
  • abnormal ears
  • wide-set eyes
37
Q

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

A

bladder outlet obstruction

38
Q

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

A

28 weeks

39
Q

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

A

infantile polycystic disease

40
Q

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

A

trisomy 13

41
Q

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

A

false

42
Q

The permanent kidneys arise from the _____.

A

metanephros

43
Q

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

A

hydrometrocolpos

44
Q

most common renal tumor is____?

A

mesoblastic nephroma (harmartoma)

45
Q

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

A

posterior urethral valve obstruction

46
Q

what is the most common urethral anomaly?

A

posterior urethral valve obstruction