ERU-25 The Fetal Face and Neck

Question 1

What facial abnormalities have been linked to holoprosencephaly?

Answer 1

Hypotelorism (decreased distance btw eyes
Cebocephaly (nose with single nostril)
Ethmocephaly (no nose. proboscis btw eyes)
Cyclopia
Cleft lip
Cleft palate

Question 2

ocular diameter
interocular diameter
binocular diameter

Answer 2

The width of 1 eye
Width between eyes
Width from outer edge of 1 eye to outer edge of the other

Question 3

Microphthalmia:
Anophthalmia:
Hypertelorism:

Answer 3

M: A decrease in eye size
A: Absence of eye(s)
H: Increased distance between the orbits (often caused by an anterior cephalocele)

Question 4

Microtia

Answer 4

Small ears: linked with Down syndrome

Question 5

Macroglossia is linked with what conditions?

Answer 5

Down syndrome and Beckwith-Wiedemann syndrome

Question 6

Epignathus

Answer 6

A mostly solid appearing oral teratoma

Question 7

With what conditions is micrognathia associated?

Answer 7

Trisomy 13 and 18

Question 8

With what conditions is cystic hygroma associated?

Answer 8

Turner syndrome
Fetal hydrops
Aneuploidy
Trisomy 13, 18, 21

Question 9

When is the nuchal fold typically measured?

What is a normal measurement?

Answer 9

15-21 weeks

>6mm is abnormal

Question 10

What can cause fetal goiter?

Answer 10

Overtreatment of maternal Grave disease
Iodine deficiency
Hypothyroidism

Question 11

What is the DDx for fetal solid neck mass?

Answer 11

Goiter
Lymphangioma
Hemangioma
Cervical teratoma
Branchial cleft cyst
Thyroglossal duct cyst

Question 12

By what gestational age does the fetal lip cleft close?

the palate?

Answer 12

8 weeks`

12 weeks

Question 13

At what level is the nuchal fold measured?

Answer 13

The cavum septum pellucidum