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Flashcards in Fetal Syndromes Deck (52)
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1

This is a single defect leading to the development of other defect.

sequence

2

This is the presence of two or more embryologically unrelated anomalies occurring together.

syndrome

3

This is a non-random occurrence of two or more defects occurring less frequently than a syndrome but more frequently than chance alone.

association

4

This is a rare condition caused by strands of amniotic sac restrict tissue growth.

amniotic band syndrome

5

T/F? Amniotic bands are non-stretchable.

true

6

Amniotic Band Syndrome causes limb defects like...

1. amputations
2. constrictions
3. clubfeet
4. pseudosyndactyly

7

Amniotic Band Syndrome causes craniofacial defects like...

1. asymmetric anencephaly
2. encephalocele
3. facial clefting
4. severe facial dysmorphia

8

What sort of defects does amniotic band syndrome cause?

1. limb defects
2. craniofacial defects
3. visceral defects

9

Sonographically, ABS appears as...

echogenic linear structure attached to the fetus and two or more deformities/defects

10

This is a condition where two or more digits are fused together.

syndactyly

11

T/F? 85% of Patau's syndrome cases die before 1 yr old.

true

12

Sonographically, Patau's syndrome will present with ...

1. holoprosencephaly**
2. IUGR
3. Polyhydramnios (20+ cm)
4. corpus callosum agenesis
5. microgathia
6. cleft lip/palate

13

Patau's sometimes presents with these congenital abnormalities...

1. omphalocele
2. heart issues
3. polycystic kidneys

14

T/F? The prognosis for ABS cases is usually pretty bad.

FALSE, not necessarily

15

T/F? The prognosis for Patau's is usually pretty bad.

true

16

Sonographically, Edward's presents with...

1. Clinodactyly **
2. IUGR
3. polyhydramnios
4. heart issues
5. micrognathia
6. prominent occiput
7. dandy walker
8. limb malformations

17

Edward's sometimes presents with these congenital abnormalities...

1. diaphragmatic hernia
2. omphalocele
3. hydronephrosis

18

Sonographically, Down's presents with...

1. NUCHAL FOLD THICKNESS!!

19

A 'thick' nuchal fold measures __ between __ weeks.

greater than 6 mm, 15-21

20

Down's sometimes presents with these congenital abnormalities...

1. cystic hygroma
2. mild ventriculomegaly
3. heart issues
4. duodenal atresia
5. diaphragmatic hernia
6. renal pyelectasis
7. echogenic bowel

21

Turner's syndrome is also known as...

XO karyotype, Bonnevie-Ullrich, gonadal dysgenesis, monosomy X.

22

Turner's sometimes presents with these symptoms...

1. short stature
2. webbed neck
3. absent or reduced sexual characteristics
4. absence of menstruation

23

T/F? Turner's cases are mentally limited.

FALSE, normal

24

T/F? Patau's cases are born with swollen hands and feet.

FALSE, Turner's

25

Other pathology associated with Turner's?

1. cystic hygroma
2. heart issues
3. horseshoe kidneys
4. unilateral renal agenesis

26

Treatment for Turner's?

HRT

27

Kleebattschadel syndrome is also known as...

craniosynostosis or cloverleaf skull

28

This is a condition in which the infant skull fuses prematurely, restricting brain growth.

cloverleaf

29

Other physical signs that come with cloverleaf are...

1. bulging eyes
2. beaked nose
3. lowered ears

30

This is a hereditary syndrome of malformations to the heart and upper extremities.

Holt-Oram Syndrome