Fetal Face Flashcards

1
Q

What is hypotelorism?

A

Orbits spaced too close together

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2
Q

What is hypertolerism?

A

Orbits too far apart

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3
Q

How do you measure orbits?

A

Inner to inner

Outer to outer

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4
Q

What is the most common association with hypotelorism?

A

Holoprosencephaly

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5
Q

What else can be associated with hypotelorism?

A

Trisomy 13
Microcephaly
Williams syndrome

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6
Q

What is associated with hypertelorism?

A
Anterior cephaloceles
Craniosynostosis
Median cleft syndrome 
Trisomy 18
Noonan syndrome
Teratogen exposure
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7
Q

What is anopthalmia?

A

Absence of globe and often the orbits

Results from failure of optic vesicle to form

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8
Q

Unilateral anopthalmia is associated with:

A

Goldenhar-Gorlin syndrome

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9
Q

What is the most common facial abnormality?

A

Cleft lip/palate

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10
Q

How many patients affected with cleft lip also have cleft palate?

A

2/3

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11
Q

Isolated cleft palate is difficult to pick up prenatally.

T/F

A

True

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12
Q

Cleft lip results from:

A

Lack of fusion of maxillary prominence with nasal prominence on one or both sides

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13
Q

Cleft palate without cleft lip results from:

A

Failure of maxilla, primary and secondary palates to fuse

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14
Q

Associations with cleft lip/palate

A
Trisomy 13
CNS anomalies
Cardiac anomalies
Teratogens
Holoprosencephaly 
Amniotic band syndrome
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15
Q

What scanning plane helps diagnose cleft lip/palate?

A

Coronal

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16
Q

Which palate clefting can be seen prenatally, hard or soft?

A

Hard

17
Q

What else may you see if the fetus is unable to swallow because of a cleft lip/palate?

A

Polyhydramnios

Small stomach

18
Q

How does color Doppler help diagnose cleft lip/palate?

A

Demonstrates flow of fluid through cleft

19
Q

What is micrognathia?

A

Hypoplastic mandible

Small chin

20
Q

What is associated with Micrognathia?

A

Trisomy 18
Pierre Robin sequence
Hemifacial microsomia
Goldenhar-Gorlin syndrome

21
Q

What is macroglossia?

A

Persistent protrusion of tongue

22
Q

Macroglossia is associated with:

A

Beckwith-Wiedemann syndrome

Congenital hypothyroidism

23
Q

Cyclopia is:

A

A midline fusion of orbits that results in a single orbit

24
Q

A protrusion of nasal tissue above the orbit is a:

A

Blind proboscis

25
Q

Cyclopia is associated with:

A

Holoprosencephaly

Cytomegalovirus exposure