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DMST 315 OBGYN 3 > Module 6: More Chormosomal Abnormaliteis > Flashcards

Module 6: More Chormosomal Abnormaliteis Flashcards

1
Q

How common is alert syndrome?

A

Rare syndrome

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2
Q

What is apert syndrome? 2.2

A
  1. Premature fusion of the skull bones
    1. Craniosynostosis
    2. Changing the normal head shape
  2. Acrocephalosyndactyly
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3
Q

What is acrocephalosyndactyly?

A

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

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4
Q

FGFR2 gene is responsible for what?

A

Bone development

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5
Q

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

A
  1. FGFR2
  2. Abnormal fusion of the skull, hand, and foot bones
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6
Q

What are some sonographic appearances of aperts syndrome? 7

A
  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
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7
Q

What is CHARGE syndrome?

A

A collection of rare malformations

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8
Q

80-90% of CHARGE syndrome individuals have what?

A

Coloboma

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9
Q

What is Coloboma? 2

A
  1. A hole in the structure of the eye
  2. Affects eye sight in one or both eyes
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10
Q

What are some physical symptoms of CHARGE symptoms? 2

A
  1. Small eyes
  2. Cranial nerve damage
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11
Q

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

A
  1. Swallowing
  2. Facial paralysis
  3. Smell
  4. Hearing
  5. Heart defects
  6. Cleft lip/ palate
  7. Hypogonadism
  8. TE fistula
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12
Q

What does CHARGE stand for?

A
  1. Coloboma - eye
  2. Heart defects
  3. Atresia choanae- nasal passage
  4. Growth restriction
  5. Genital abnormalities
  6. Ear abnormalities
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13
Q

What are some sonographic appearances of CHARGE? 9

A
  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
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14
Q

What is amniotic band syndrome caused by?

A

Rupture of the amnion

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15
Q

Amniotic band syndrome results in what?

A

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

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16
Q

What is the outcomes for amniotic band syndrome?

A

Depend on the degree of entanglement

17
Q

What is the Limb-body wall complex or LBWC?

A

Combination of limb and ventral wall defects

18
Q

What are the two types of LVWC?

A
  1. One with craniofacial defects
  2. One without craniofacial defects
19
Q

What are examples of craniofacial defects? 3

A
  1. Encephalocele or exencephaly
  2. Facial cleft
  3. Adhesion of the amnion between the placenta and cranial defect
20
Q

What are some additional defects with LBWC? 8

A
  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
21
Q

LBWC severity depends on what/?

A

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

22
Q

What happens at 5weeks for LBWC? 4

A
  1. Anencephaly
  2. Asymmetric encephaloceles
  3. Facial clefts
  4. Placenta attaching to head/ abdomen
23
Q

What happens at 7-8 weeks with LBWC? 2

A
  1. Limb reduction or abnormalities
  2. Thorocoabdominal malforamtions (scoliosis)
24
Q

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

A

Malformation and amputation of limbs

25
Q

What is the sonographic appearance of LBWS? 5

A
  1. Fetus appears stuck to the placenta
  2. Ventral wall defects
  3. Facial clefts
  4. Severe kyphoscoliosis
  5. Limb abnormalities
26
Q

What are some limb abnormalities of LBWS? 2

A
  1. Upper extremity phocomelia
  2. Abnormal thumbs (absent, bifold thumb, triphalangeal thumb)
27
Q

What is beckwidth- Weismann syndrome? 8

A

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

28
Q

BWS causes an increase risk for what? 2

A

Paediatric neoplasia such as
1. Wilma tumor
2. Hepatoblastoma

29
Q

What is the sonographic appearance of BWS? 7

A
  1. Macroglossia
  2. Macrosomia
  3. Omphalocele
  4. Enlarged kidneys
  5. Cardiomegaly
  6. Placenta Choriocarcinoma
  7. Polyhydraminos
30
Q

Why are children with BWS constantly scanned?

A

Because of the increased incidence of these tumors

31
Q

What is Meckel Gruber syndrome?

A

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

32
Q

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

A
  1. Renal dysplasia
  2. Limb anomalies
  3. Encephalocele
  4. Sometimes DWS
33
Q

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

A
  1. Encephalocele
  2. Large echogenic kidneys
  3. MRI
  4. Polydactyly
34
Q

What does this image represent?

A

CHARGE syndrome

35
Q

What does this image represent?

A

Trachea-esophageal fistula

36
Q

What does this image represent?

A

Amniotic band syndrome

37
Q

What does this image represent?

A

Limb-body wall complex

38
Q

What does this image represent?

A

LBWS

39
Q
A

DMST 315 OBGYN 3 (21 decks)

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