Fetal Face Flashcards
What is hypotelorism?
Orbits spaced too close together
What is hypertolerism?
Orbits too far apart
How do you measure orbits?
Inner to inner
Outer to outer
What is the most common association with hypotelorism?
Holoprosencephaly
What else can be associated with hypotelorism?
Trisomy 13
Microcephaly
Williams syndrome
What is associated with hypertelorism?
Anterior cephaloceles Craniosynostosis Median cleft syndrome Trisomy 18 Noonan syndrome Teratogen exposure
What is anopthalmia?
Absence of globe and often the orbits
Results from failure of optic vesicle to form
Unilateral anopthalmia is associated with:
Goldenhar-Gorlin syndrome
What is the most common facial abnormality?
Cleft lip/palate
How many patients affected with cleft lip also have cleft palate?
2/3
Isolated cleft palate is difficult to pick up prenatally.
T/F
True
Cleft lip results from:
Lack of fusion of maxillary prominence with nasal prominence on one or both sides
Cleft palate without cleft lip results from:
Failure of maxilla, primary and secondary palates to fuse
Associations with cleft lip/palate
Trisomy 13 CNS anomalies Cardiac anomalies Teratogens Holoprosencephaly Amniotic band syndrome
What scanning plane helps diagnose cleft lip/palate?
Coronal
Which palate clefting can be seen prenatally, hard or soft?
Hard
What else may you see if the fetus is unable to swallow because of a cleft lip/palate?
Polyhydramnios
Small stomach
How does color Doppler help diagnose cleft lip/palate?
Demonstrates flow of fluid through cleft
What is micrognathia?
Hypoplastic mandible
Small chin
What is associated with Micrognathia?
Trisomy 18
Pierre Robin sequence
Hemifacial microsomia
Goldenhar-Gorlin syndrome
What is macroglossia?
Persistent protrusion of tongue
Macroglossia is associated with:
Beckwith-Wiedemann syndrome
Congenital hypothyroidism
Cyclopia is:
A midline fusion of orbits that results in a single orbit
A protrusion of nasal tissue above the orbit is a:
Blind proboscis
