Fetal Face And Neck Flashcards

1
Q

Facial anomalies associated with holoprosencephaly

A
Hypotelorism 
Ethmocephaly
Cebocephaly 
Cyclopia
Cleft lip
Cleft palate
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2
Q

Hypotelorism combined with a nose with a single nostril

A

Cebocephaly

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3
Q

No nose, a proboscis between close-set eyes

A

Ethmocephaly

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4
Q

What measurement is this

A

Outer ocular/ Binocular diameter

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5
Q

What measurement is indicated by “A”

A

Inner ocular diameter

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6
Q

What measurement is this

A

Ocular diameter

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7
Q

Decrease in the size of the eye

A

Microphthalmia

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8
Q

Absence of the eye(s)

A

Anophthalmia

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9
Q

Anophthalmia is associated with which chromosomal anomalies

A

Trisomy 13 & 18

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10
Q

Hypertelorism is more accurately diagnosed with which measurement

A

Inner ocular diameter

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11
Q

The most common cause of hypertelorism

A

Anterior cephalocele

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12
Q

The most common cause of hypotelorism

A

Holoprosencephaly

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13
Q

Most common chromosomal anomaly associated with hypotelorism

A

Trisomy 13

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14
Q

Microtia

A

Small ears

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15
Q

Microtia has a strong link with what chromosomal anomaly

A

Trisomy 21/down syndrome

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16
Q

The fetal lip closes between weeks—

A

Between weeks 7-8

17
Q

Fetal palate closes by week

A

Week 12

18
Q

Big tongue

A

Macroglossia

19
Q

Macroglossia is most commonly associated with

A

Becwith Wiedemann syndrome

20
Q

oral teratoma

A

Epignathus

21
Q

How to distinguish an epignathus from macroglossia

A

Oral teratomas often appear complex whereas macroglossia is solid

22
Q

Small chin/mandible

A

Micrognathia

23
Q

Micrognathia is associated with what chromosomal anomalies

A

Trisomy 13 and 18

24
Q

Abnormal accumulation of lymphatic fluid in the soft tissue, most commonly the neck

A

Cystic hygroma

25
Q

Cystic hygromas are most commonly associated with which chromosomal abnormality

A

Turners syndrome

26
Q

What is this

A

Abnormal Nuchal fold

27
Q

Cystic hygromas appear

A

Cystic neck mass divided in the midline by a thick band of tissue

28
Q

Abnormal Nuchal fold measurement

A

6mm or larger

29
Q

When is Nuchal fold measured

A

Between 15-21 weeks