Syndromes

Question 1

What is seen in people with tri-21? (11)

Answer 1

mild ventriculomegaly 
nuchal thickening 
echogenic foci
atrioventricular canal defect 
duodenal atresia
echogenic bowel
mild pyelectasis
widened iliac angle
shortening of femur and humerus
clinodactyly of 5th digit (inward curvature)
sandal gap toes

Question 2

What is seen in people with people with tri-18?

Answer 2

IUGR
strawberry shaped head
choroid plexus cysts
enlarged cisterna magna
ventricular/atrial septal defect
congenital diaphragmatic hernia
omphalocele
persistent clenching of hands w/ overlapping digits
rocker bottom feet
clubfoot

Question 3

What’s the most common chromosomal abnormality associated with choroid plexus cysts?

Answer 3

tri-18

Question 4

What is seen in people with tri-13?

Answer 4

IUGR
microcephaly
holoprosencephaly
facial defects (cleft lip, ocular abnormalities, nose abnormalities)
cardiac anomalies
GU (not sure what I was writing here…genitourinary anomalies?)
polydactyly

Question 5

What is the most common GU abnormalitiy with tri-13?

Answer 5

cystic renal dysplasia

Question 6

Triploidy + Turner’s syndrome is a/w maternal age. True or false

Answer 6

False

Question 7

What is seen in people with Turner’s syndrome? (D.45, XO:)

Answer 7

fetal hydrops
cystic hygroma
cardiac anomalies (coarctation of the aorta)

Question 8

What is seen in those with Noonan’s syndrome?

Answer 8

facial characteristics
short stature
heart defects
bleeding problems
skeletal malformations

Question 9

What’s the most common heart defect in Noonan’s syndrome?

Answer 9

pulmonary valve stenosis

Question 10

What is seen in those with triploidy?

Answer 10

IUGR
holoproscencephaly
polydactyly
short femur (60%)
molar pregnancies

Question 11

Pentalogy of Cantrell:

Answer 11

omphalocele
congenital diaphragmatic hernia
ectopia cordis
heart defect
pericardial defects

Question 12

Beckwidth-Wiedemann Syndrome:

Answer 12

"overgrowth syndrome" 
macrosomia 
omphalocele
renal neoplasm
macroglossia

also abdo wall defects

Question 13

What is seen in people with Meckel Gruber syndrome?

Answer 13

enlarged cystic kidneys
occipital encephalocele
polydactyly
liver fibrosis

Question 14

Those with Meckel Gruber syndrome can live to adulthood. True or false

Answer 14

False

Question 15

Walker Warburg syndrome affects:

Answer 15

muscles, brain + eyes

Question 16

Congenital muscular dystrophies:

Answer 16

most severe form of genetic conditions which causes muscles weakness and atrophy

Question 17

What syndrome is described as “floppy” muscles

Answer 17

Walker Warburg

Question 18

Smith Lemli Opitz Syndrome is characterized by:

Answer 18

distinctive facial features
microcephaly
intellectual disabilities
behavioural problems (autism)

Question 19

During a scan of a 22-week pregnant patient you note the following fetal abnormalities: strawberry-shaped skull, enlarged cisterna magna, omphalocele, and persistent overlapped and clenched digits. What is the most likely diagnosis?

Answer 19

Tri18

Question 20

What is the most common chromosomal abnormality?

Answer 20

tri21

Question 21

What is the most common cardiac anomaly associated with Trisomy 21?

Answer 21

endocardial cushion defect

Question 22

Which of the following syndromes is associated with strawberry shaped skull?

Answer 22

tri18

Question 23

Prenatal findings including short stature, scoliosis, and a protruding chest would suggest which of the following syndromes?

Answer 23

Noonan’s syndrome

Question 24

Which of the following syndrome(s) is associated with fetal hydrops?

Answer 24

Turner’s syndrome + tri21

Question 25

Cystic kidneys, polydactyly, and encephalocele are the classic triad of findings for which of the following syndromes?

Answer 25

Meckel-Gruber syndrome

Question 26

Cobblestone lissencephaly is associated with which of the following syndromes?

Answer 26

Walker Warburg