Module 6: More Chormosomal Abnormaliteis

Question 1

How common is alert syndrome?

Answer 1

Rare syndrome

Question 2

What is apert syndrome? 2.2

Answer 2

1. Premature fusion of the skull bones
   
   1. Craniosynostosis
   2. Changing the normal head shape
2. Acrocephalosyndactyly

Question 3

What is acrocephalosyndactyly?

Answer 3

Group of congenital disorders consisting of cranial facial and hand and foot abnormalities

Question 4

FGFR2 gene is responsible for what?

Answer 4

Bone development

Question 5

Alerts is a syndrome that there is a alteration of what gene? What does this result in? 2

Answer 5

1. FGFR2
2. Abnormal fusion of the skull, hand, and foot bones

Question 6

What are some sonographic appearances of aperts syndrome? 7

Answer 6

1. Prominent bulging forehead
2. Increased Cephalic index
3. Maxillary underdevelopment
4. Hypertelorism - wide set eyes
5. Agenesis of corpus callosum- ACC
6. Ventriculomegaly
7. SYndactyly or digital fusion

Question 7

What is CHARGE syndrome?

Answer 7

A collection of rare malformations

Question 8

80-90% of CHARGE syndrome individuals have what?

Answer 8

Coloboma

Question 9

What is Coloboma? 2

Answer 9

1. A hole in the structure of the eye
2. Affects eye sight in one or both eyes

Question 10

What are some physical symptoms of CHARGE symptoms? 2

Answer 10

1. Small eyes
2. Cranial nerve damage

Question 11

With Charge syndrome, what are some things that cranial nerve damage results in? 8

Answer 11

1. Swallowing
2. Facial paralysis
3. Smell
4. Hearing
5. Heart defects
6. Cleft lip/ palate
7. Hypogonadism
8. TE fistula

Question 12

What does CHARGE stand for?

Answer 12

1. Coloboma - eye
2. Heart defects
3. Atresia choanae- nasal passage
4. Growth restriction
5. Genital abnormalities
6. Ear abnormalities

Question 13

What are some sonographic appearances of CHARGE? 9

Answer 13

1. Cardiac abnormalities
2. Cleft lip
3. Cleft palate
4. Renal anomalies - horseshoe
5. Omphalocele - AFP increase
6. Hemivertebrae
7. Hypertelorism
8. TE fistula
9. Polydactyly

Question 14

What is amniotic band syndrome caused by?

Answer 14

Rupture of the amnion

Question 15

Amniotic band syndrome results in what?

Answer 15

Fetal parts being entangled by amniotic bands or sheets, causing disruption or amputation

Question 16

What is the outcomes for amniotic band syndrome?

Answer 16

Depend on the degree of entanglement

Question 17

What is the Limb-body wall complex or LBWC?

Answer 17

Combination of limb and ventral wall defects

Question 18

What are the two types of LVWC?

Answer 18

1. One with craniofacial defects
2. One without craniofacial defects

Question 19

What are examples of craniofacial defects? 3

Answer 19

1. Encephalocele or exencephaly
2. Facial cleft
3. Adhesion of the amnion between the placenta and cranial defect

Question 20

What are some additional defects with LBWC? 8

Answer 20

1. Short umbilical cords
2. Intact amnion/ extraembryonic coelom persistence
3. Urogenital malformations
4. SPinal dysgraphia or scoliosis
5. Anal atresia
6. Lumbo- sacral meningococcal
7. Limb defects
8. Increase AFP in the 2nd trimester

Question 21

LBWC severity depends on what/?

Answer 21

The time of pregnancy when the amnion rupture sand what attaches to the embryo

Question 22

What happens at 5weeks for LBWC? 4

Answer 22

1. Anencephaly
2. Asymmetric encephaloceles
3. Facial clefts
4. Placenta attaching to head/ abdomen

Question 23

What happens at 7-8 weeks with LBWC? 2

Answer 23

1. Limb reduction or abnormalities
2. Thorocoabdominal malforamtions (scoliosis)

Question 24

What happens with LBWC at the end of the 1st trimester or later?

Answer 24

Malformation and amputation of limbs

Question 25

What is the sonographic appearance of LBWS? 5

Answer 25

1. Fetus appears stuck to the placenta 2. Ventral wall defects 3. Facial clefts 4. Severe kyphoscoliosis 5. Limb abnormalities

Question 26

What are some limb abnormalities of LBWS? 2

Answer 26

1. Upper extremity phocomelia 2. Abnormal thumbs (absent, bifold thumb, triphalangeal thumb)

Question 27

What is beckwidth- Weismann syndrome? 8

Answer 27

Overgrowth disorder with 5 findings such as 1. Macrosomia 2. Macroglossia 3. Anterior wall defects 4. Hypoglycaemia at brith 5. Hemihyperplasia 6. Renal Abnormalities 7. Overgrowth of external genitalia 8. Visceromegaly

Question 28

BWS causes an increase risk for what? 2

Answer 28

Paediatric neoplasia such as 1. Wilma tumor 2. Hepatoblastoma

Question 29

What is the sonographic appearance of BWS? 7

Answer 29

1. Macroglossia 2. Macrosomia 3. Omphalocele 4. Enlarged kidneys 5. Cardiomegaly 6. Placenta Choriocarcinoma 7. Polyhydraminos

Question 30

Why are children with BWS constantly scanned?

Answer 30

Because of the increased incidence of these tumors

Question 31

What is Meckel Gruber syndrome?

Answer 31

Gene that produces the proteins required to make primary cilium of the ciliated epithelial cells

Question 32

What are some things we see with Meckel- Gruber syndrome? 4

Answer 32

1. Renal dysplasia 2. Limb anomalies 3. Encephalocele 4. Sometimes DWS

Question 33

What is the sonographic appearance of Meckel- Gruber syndrome? 4

Answer 33

1. Encephalocele 2. Large echogenic kidneys 3. MRI 4. Polydactyly

Question 34

What does this image represent?

Answer 34

CHARGE syndrome

Question 35

What does this image represent?

Answer 35

Trachea-esophageal fistula

Question 36

What does this image represent?

Answer 36

Amniotic band syndrome

Question 37

What does this image represent?

Answer 37

Limb-body wall complex

Question 38

What does this image represent?

Answer 38

LBWS