ARRT Penny Chapter 25 The fetal face and neck
Macroglossia is most commonly found with:
beckwidth-wiedemann syndrome
thyroglossal duct cyst
benign congenital cysts located within the midline of the neck superior to the thyroid gland and near the hyoid bone
Brachial cleft cyst
benign congenital neck cysts found most often near the angle of the mandible
The nuchal fold measurement is typically obtained:
between 15 weeks and 21 weeks
Cebocephaly
close-set eyes (hypotelorism) and a nose with a single nostril
fetal goiter
diffuse enlargement of the fetal thyroid gland
Nuchal thickening is most commonly associated with:
down syndrome
There is definite link between microtia and what syndrome?
down syndrome
An oral teratoma is referred to as:
epignathus
The isolated enlargement of the fetal thyroid referred to as:
fetal goiter
cyclopia
fusion of the orbits
The thickness of the nuchal fold in the second trimester should not exceed:
6mm
The fetal lip typically closes by:
8 weeks
At what level is the nuchal fold measurement?
cavum septum pellucidum
Close set eyes and a nose with a single nostril is termed:
cebocephaly
An anterior ___________, which displaces the orbits laterally, has been cited as the most common cause of _____________. _______________ has been cited as the most common cause of ______________.
cephalocele, hypertelorism, holoprosencephaly, hypotelorism
A large, mostly cystic mass containing a thick, midline septation is noted in the cervical spine region of a fetus. This most likely represents a:
cystic hygroma
All the following are sonographic features of holoprosencephaly except: Cystic hygroma Proboscis with cyclopia fused thalamus monoventricle
cystic hygroma
The sonographic appearance of a ______________ is that of a cystic neck mass divided in the midline by a thick fibrous band of tissue.
cystic hygroma
Cleft palate
-The abnormal development of the soft and/or hard palate of the mouth where there is a division in the palate
Songraphic findings of a cystic hygroma:
1. cystic mass divided in the midline by a thick fibrous band of tissue 2. The mass may contain smaller cystic areas with internal septations
A nuchal fold measurement of ________ or larger is considered abnormal.
6 mm
Aneuploidy
A condition in having an abnromal number of chromosomes
A group of abnormalities associated with the entrapment of fetal parts and fetal amputations is:
Amniotic band syndrome
a cystic hygroma is the result of:
An abnormal accumulation of lymphatic fluid within the soft tissue
The growth disorder syndrome synonymous with organ, skull, and tongue enlargement is:
Beckwidth-Wiedemann syndrome
The measurement is obtained between the lateral walls of the orbits is referred to as the:
Binocular diameter
Which of the following is a benign congenital neck cysts found most often near the angle of the mandible? Epignathus Branchial cleft cyst thyroglossal duct cyst Fetal goiter
Branchial cleft cyst
An abnormal division in the lip is referred to as:
Cleft lip
Fusion of the orbits is termed:
Cyclopia
Microphthalmia
Decrease in the size of the eye
Which of the following is also referred to as trisomy 21? Edwards syndrome Patau syndrome Meckel-gruber syndrome Down syndrome
Down syndrome
The condition in which there is no nose and a proboscis separating two close-set orbits is:
Ethmocephaly
interocular diameter
Length between orbits; measured from medial margin of one orbit to medial margin of other orbit
_____________ is defined as an unusual protuberance of the tongue. It is the most commonly associated with __________ ___________ _________ and down syndrome.
Macroglossia, Beckwidth-Wiedemann syndrome
which of the following is also referred to as turner syndrome ? down syndrome trisomy 15 trisomy 13 monosomy X
Monosomy X
The most common location of a cystic hygroma is within the:
Neck
Which of the following is also referred to as Patau syndrome? Trisomy 18 Trisomy 21 Trisomy 12 Trisomy 13
Trisomy 13
turner syndrome
a chromosomal aberration where one sex chromosome is absent; may also be referred to as monosomy X
Nuchal fold
a collection of solid tissue on the posterior aspect of the fetal neck
ethmocephaly
a condition in which there is no nose and a proboscis separating two close-set orbits; associated with holoprosencephaly
holoprosencephaly
a group of brain abnormalities consisting of varying degrees of fusion of the lateral ventricles, absence of the midline structures, and associated facial anomalies
cystic hygroma
a mass, typically found in the neck region, that is the result of an abnormal accumulation of lymphatic fluid within the soft tissue
Nuchal fold thickness
a measurement taken in the second trimester of the skin on the posterior aspect of the fetal neck
Micrognathia
a small mandible and recessed chin
teratoma
a tumor that typically consists of several germ cell layers
edema
abnormal swelling of a structure as a result of a fluid collection
anophthalmia
absence of eye(s)
fetal hydrops
an abnormal accumulation of fluid in at least two fetal body cavities
epignathus
an oral teratoma
Macroglossia
an unusual protuberance of the tongue
The absence of the eyes is termed:
anophthalmia
the most common cause of hypertelorism is:
anterior cephalocele
amniotic band syndrome
group of abnormalities associated with the entrapment of fetal parts in the amnion, often resulting in fetal amputations or clefting
Beckwidth-Wiedemann Syndrome
growth disorder syndrome with enlargement of several organs, including skill, tongue and liver.
Facial anomalies, when discovered, should prompt the sonographer to analyze the brain closely for signs of:
holoprosencephaly
Whenever any form of _____________ is suspected, a thorough facial evaluation should be performed to assess for the associated facial abnormalities that often accompany this unfortunate brain malformation.
holoprosencephaly
An increase distance between the orbits is referred to as:
hypertelorism
A reduction in the distance between the orbits is referred to as:
hypotelorism
hypertelorism
increased distance between the orbits; widely spaced orbits
Which of the following would be most difficult to detect sonographically? cleft lip and cleft palate isolated cleft lip isolated cleft palate isolated median cleft
isolated cleft palate
An unusual protuberance of the tongue is termed
macroglossia
Binocular diameter
measurement from the lateral margin of one orbit to the lateral margin of the other orbit
A small mandible is termed:
micrognathia
What is the term for a smaller than normal ear?
microtia
hypotelorism
reduced distance between the orbits
The optimal scan plan to visualize micrognathia is:
sagittal
microtia
small ear(s)
cleft lip
the abnormal division in the lip
nuchal translucency
the anechoic space along the posterior aspect of the fetal neck
ocular diameter
the measurement from the lateral margin of the orbit to the medial margin of the same orbit
Nuchal
the posterior part of the nape of the neck
The most frequently encountered chromosomal abnormality associated with holoprosencephaly is:
trisomy 13
Micrognathia is a condition found in:
trisomy 18
An absent or hypoplastic nasal bone is most likely associated with:
trisomy 21
An increased nuchal fold is most likely associated with:
trisomy 21
Which of the following would most likely involve the development of a cystic hygroma?
turner syndrome
