Test 6

Question 1

Amniotic band syndrome

Answer 1

entrapment of fetal parts by disrupted amnion

Question 2

theory of amniotic band syndrome 4

Answer 2

chorionic side of membrane is sticky
entraps fetal parts
vascular construction
deformity and amputation

Question 3

when does ABS happen

Answer 3

6-18 weeks

Question 4

outcome/prognosis of ABS

Answer 4

depends on severity of findings

extremity vs. abdomen/head. one vs. many

Question 5

treatment for ABS

Answer 5

possible in utero lysis of bands

Question 6

imaging of AS 5

Answer 6

asymmetric disruption of defects
craniofacial deformities
abdominal wall defects
edema of distal extremities
amniotic band in contact with deformity

Question 7

classes of ABS 5

Answer 7

1 - amniotic bands without signs of constriction
2 - constriction without vascular compromise
3 - progressive arterial compromise
4 - bowing or fractures of long bones
5 - amputation

Question 8

cause of beckwith-wiedemann syndrome 4

Answer 8

multigenetic disorder
increased frequency in monozygotic
females
ART

Question 9

classical triac of beckwith-wiedemann syndrome

Answer 9

macrosomia 88%
omphalocele
macroglossia 97%

Question 10

findings of beckwith wiedemann syndrome 8

Answer 10

macrosomia
omphalocele
macroglossia
nephoromegaly
hepatomegaly
hemihyperplasia
ear groove
poly

Question 11

increased risk of ____ with BWS 4

Answer 11

preeclampsia
PTD
Wilm’s tumor
hypoglydemia

Question 12

meckel-gruber syndrome cause

Answer 12

autosomal recessive

Question 13

meckel-gruber classic triad

Answer 13

renal cystic dysplasia 95-100%
encephalocele 90%
polydactyly 50-75%

Question 14

what should meckel gruber have to be considered as differential

Answer 14

2/3 of classic features

Question 15

ability to properly differentiate abnormality is hindered by ____ to ____

Answer 15

oligo to anhydramnios

Question 16

imaging of kidneys in meckel gruber 6

Answer 16

10-20x
echogenic
large cysts 
\+- agenesis
large AC
small/absent bladder and stomach

Question 17

CNS anomalies with MGS 6

Answer 17

occipital encephalocele 60-80%
dandy walker malformation
microcephaly
agenesis of CC
ventriculomegaly
holo

Question 18

extremity findings with MGS 4

Answer 18

postaxial polydactyly
clubbed feet
short limbs
bowing long bones

Question 19

facial malformations with MGS 5

Answer 19

cleft lip/palate
micrognathia
micropthalmia
ear malformations
sloping forehead

Question 20

cardiac defects with MGS 2

Answer 20

septal defects

coarctation of Ao

Question 21

sirenomelia other name

Answer 21

mermaid syndrome

Question 22

sirenomelia

Answer 22

usually lethal malformation of lower extremity fusion, associated skeletal ,GI and genitourinary abnormalities
possible vascular accident
possibly caused by abnormal blastogenesis

Question 23

imaging of sirenomelia 4

Answer 23

single or fused lower extremities
absence of normally papered lumbosacral spine
mid trimester anhyramnios due to bilateral renal agenesis
2VC

Question 24

cause of tuberous sclerosis

Answer 24

autosomal dominant

>50% new mutations

Question 25

presentation of tuberous sclerosis 3

Answer 25

rhabdomyoma brain lesions kidney lesions

Question 26

multiple rhabdos vs single rhabdo with TS

Answer 26

``` multiple = 100% diagnostic single = 50% chance ```

Question 27

what does TS lead to 5

Answer 27

``` arrhythmias outflow or inflow obstruction congestive heart failure hydrops death ```

Question 28

CNS anomaly with TS

Answer 28

subcortical tubers often not discernable

Question 29

renal anomalies seen with TS 2

Answer 29

cysts | angiomyolipomas

Question 30

t/f patetients with Noonan's were previously thought to have a form of turner's syndrome

Answer 30

true

Question 31

which of the following is not true about Noonan's a. karyotype will be abnormal with noonans b. abnormal bleeding occurs in noonans c. cryptorchidism occurs in noonans d. birthweight usually normal

Answer 31

A

Question 32

a top differential for noonsn's

Answer 32

turner's

Question 33

``` treacher collins all of the following are possible US findings except a. micrognathia b. downward slanted eyes c. oligo d. cleft palate ```

Answer 33

oligo

Question 34

t/f treacher collins syndrome is also called franchetti-klein syndrome

Answer 34

true

Question 35

t/f facial features of treacher colling syndrome are best visualized with MRI

Answer 35

false

Question 36

_______ is characterised by single fused lower extremity with renal agenesis and shortened spine

Answer 36

sirenomelia

Question 37

sirenomelia is also known as

Answer 37

mermain syndrome

Question 38

prognosis for sirenomelia

Answer 38

lethal or die from pulmonary hypoplasia

Question 39

VACTERL association | what does T stand for in VACTERL

Answer 39

tracheoesophageal fistula

Question 40

VACTERL association | most common defect

Answer 40

cardiac defect

Question 41

T/f | anencephaly is a CNS anomaly associated with diabetic embryopathy

Answer 41

true

Question 42

T/F | fetal cardiac anomalies are unrelated to maternal diabetes

Answer 42

false

Question 43

pierre robin triad

Answer 43

micrognathia cleft palate glossiptosis

Question 44

pierre robin t/f seen in males

Answer 44

false

Question 45

pierre robin | most common cause of death

Answer 45

airway obstruction

Question 46

t/f | having the characteristics of CHARGE syndrome is enough to make diagnosis

Answer 46

false

Question 47

t/f some of the sonographic findings for CHARGE syndrome are ventriculomegaly, mild cerebellar hypoplasia, and genital abnormalities

Answer 47

true

Question 48

t/f | a differential diagnosis for CHARGE is enouploidy

Answer 48

true

Question 49

Which gene is mutated in Cystic Fibrosis? a) BRCA 1 b) CFTR c) CFHR5 d) Monosomy X

Answer 49

b

Question 50

t/f | The best diagnostic clue of CF is echogenic bowel

Answer 50

true

Question 51

t/f | cystic fibrosis is autosomal dominant

Answer 51

false