Fetal Face And Neck Flashcards
Facial anomalies associated with holoprosencephaly
Hypotelorism Ethmocephaly Cebocephaly Cyclopia Cleft lip Cleft palate
Hypotelorism combined with a nose with a single nostril
Cebocephaly
No nose, a proboscis between close-set eyes
Ethmocephaly
What measurement is this
Outer ocular/ Binocular diameter
What measurement is indicated by “A”
Inner ocular diameter
What measurement is this
Ocular diameter
Decrease in the size of the eye
Microphthalmia
Absence of the eye(s)
Anophthalmia
Anophthalmia is associated with which chromosomal anomalies
Trisomy 13 & 18
Hypertelorism is more accurately diagnosed with which measurement
Inner ocular diameter
The most common cause of hypertelorism
Anterior cephalocele
The most common cause of hypotelorism
Holoprosencephaly
Most common chromosomal anomaly associated with hypotelorism
Trisomy 13
Microtia
Small ears
Microtia has a strong link with what chromosomal anomaly
Trisomy 21/down syndrome
The fetal lip closes between weeks—
Between weeks 7-8
Fetal palate closes by week
Week 12
Big tongue
Macroglossia
Macroglossia is most commonly associated with
Becwith Wiedemann syndrome
oral teratoma
Epignathus
How to distinguish an epignathus from macroglossia
Oral teratomas often appear complex whereas macroglossia is solid
Small chin/mandible
Micrognathia
Micrognathia is associated with what chromosomal anomalies
Trisomy 13 and 18
Abnormal accumulation of lymphatic fluid in the soft tissue, most commonly the neck
Cystic hygroma
Cystic hygromas are most commonly associated with which chromosomal abnormality
Turners syndrome
What is this
Abnormal Nuchal fold
Cystic hygromas appear
Cystic neck mass divided in the midline by a thick band of tissue
Abnormal Nuchal fold measurement
6mm or larger
When is Nuchal fold measured
Between 15-21 weeks
