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Def. absence of the fetal eyes
anophthalmia
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Def. absence of the fetal nose
arhinia
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Def. group of disorders having in common the coexistence of an omphalocele, macroglossia, and visceromegaly
Beckwith-Wiedemann syndrome
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Def. a cystic defect that arises from the primitive branchial apparatus
branchial cleft cyst
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Def. protrusion of the brain from the cranial cavity
cephalocele
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Def. premature closure of the cranial sutures
craniosynostoses
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Def. cystic dilation of the lacrimal sac at the nasocanthal angle
dacryocystocele
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Def. teratoma located in the oropharynx
epignathus
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Def. abnormal proturusion of the eyeball
exophthalmia
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Def. malformation of the lymphatic system that leads to single or multiloculated lymph-filled cavities around the neck
fetal cystic hygroma
-
Def. fetal enlargement of the thyroid gland
fetal goiter (thyromegaly)
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Def. abnormal smallness of one side of the face
hemifacial microsomia
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Def. congenital defect caused by an extra chromosome, which causes a deficiency in the forebrain
holoprosencephaly
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Def. fetal eyes too far apart
hypertelorism
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Def. fetal eyes too close together
hypotelorism
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Def. hypertrophied tongue
macroglossia
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Def. head smaller than the body
microcephaly
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Def. small chin
microphthalmia
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Def. increased thickness in the nuchal fold area in the back of the neck associated with trisomy 21
nuchal lucency
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Def. underdevelopment of the eyes, fingers, and mouth
oculodentodigital dysplasia
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Def. underdevelopment of the jaw that causes the ears to be located close together toward the front of the neck
otocephaly
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Def. hereditary disease caused by failure to oxidize an amino acid (phenylalnine) to tryosine, because of a defective enzyme; if PKU is not treated early, mental retardation can develop
phenylketonuria (PKU)
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Def. micrognathia and abnormal smallness of the tongue usually with a cleft palate
Pierre Robin syndrome
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Def. a cylindrical protuberance of the face that in cyclopia or ethmocephaly represents the nose
proboscis
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Def. eye disorder in which optic axes cannot be directed to the same object
strabismus
-
Def. solid tumor that can contain hair, teeth, fat, etc.
teratoma
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Def. underdevelopment of the jaw and cheek bone and abnormal ears
Treacher Collins syndrome
-
Def. premature closure of the metopic suture
trigonocephaly
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FIB. Congenital anomalies of the face affect 1 in ____ births.
600
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What does the branchial apparatus bear a resemblance to?
gills
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What structures comprise the branchial apparatus?
branchial arches, pouches, grooves, and membranes
-
The first branchial arch forms the jaw, zygomatic bone, ear, and temporal bone. What is another name for the first branchial arch?
mandibular arch
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What the hyoid bone is formed by this branchial arch?
second branchial arch
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Of the six branchial arches, how many are visible externally?
4
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FIB. Each branchial arch is separated by a _____ and is composed of a core of ______ cells.
-
This forms the cartilages, bones, muscles, and blood vessels.
mesenchyme
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The ____ _____ cells develop the skeletal parts of the face and the _______ develops the musculature of the face and neck.
-
What is the name for the primitive mouth found as an indentation on the surface of the ectoderm in an embryo at 28 days?
stomodeum
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What branchial arch does the maxillary prominences arise from and grow cranially just under the eyes?
first branchial arch (mandibular arch)
-
During a routine basic fetal scan, when should the face be screened?
- family hx of craniofacial malformations
- another congenital anomaly is found
-
Fetuses with a facial defects often have _____ abnormalities.
chromosomal
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Extensive facial screening may be hindered by? (list 4)
bone shadowing, poor fetal position, oligohydramnios, maternal obesity
-
Orbital fusion and proboscis suggest what anomaly?
holoprosencephaly
-
The fetal forehead can be appreciated in what view?
profile (which is a sagittal scan of the fetal head)
-
The fetal forehead shown in profile can demonstrate what anomalys?
anterior cephaloceles
-
Anterior cephaloceles may cause what condition of the eyes?
hypertelorism
-
skull appears unusually misshapen with a clover-leaf appearance in the anterior view
clover-leaf skull (Keeblattschadel)
-
Clover-leaf skull is associated with what anomalys?
numerous skeletal dysplasias (thanatophoric dysplasia) and ventriculomegaly
-
Trigonocephaly may cause the forehead to have an ______ appearance in the sagittal plane and _____ shaped in the axial plane.
- elongated (tall)
- triangular
-
When can features of the fetal face be identified?
end of the first trimester
-
Fetal profile is well imaged with _____ sonography.
endovaginal
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The ____ _____ view is best to image the cleft lip and palate.
modified coronal
-
The ____ and ____ are well imaged in a true coronal plane.
maxilla and orbits
-
The ______ ____ demonstrates the nasal bones, soft tissue, and mandible.
longitudinal view
-
The _______ ____ shows orbital abnormalties and intraorbital distances.
transverse view
-
what may be observed in a fetus with a lemon-shaped skull (from spina bifida) or with skeletal dysplasias?
frontal bossing
-
What is the normal appearance of the fetal face in profile?
curvilinear surface with differentiation of forehead, nose, lips, and chin
-
appears as misshapen skull with clover-leaf appearance
clover-leaf skull
-
may appear as lemon-shaped skull or absent, depressed nasal bridge
frontal bossing
-
bulging of frontal bones and wide occiput
strawberry-shaped cranium
-
distortion of facial profile (look for cleft lip)
masses of nose and upper lip
-
anomaly with depressed or absent nasal bridge and is an underdevelopment of the middle structures of the face
midface hypoplasia
-
Midface hypoplasia occurs in fetuses with chromosomal anomalies such as ?
trisomy 21, craniosynostosis syndromes, Apert's syndrome, limb and skeletal abnormalities (achondroplasia, chondrodysplasia punctata, and asphyxiating thoracic dysplasia)
-
a median-cleft face syndrome consisting of a range of midline facial defects involving the eyes, forehead, and nose
frontonasal dysplasia
-
frontonasal dysplasia includes what anomalies?
ocular hypertelorism, variable bifid nose, broad nasal bridge, midline defect of the frontal bone, and extension of the frontal hairline to form a widows peak
-
the primary finding for frontonasal dysplasia is
hypertelorism
-
Nuchal translucency is useful in diagnosing what anomaly?
aneuploidy
-
What tests are typically included with a positive nuchal screening?
- maternal biochemical screening which includes
- b-HCG and PAPP-A
-
b-HCG stands for
beta human chorionic gonadotropin
-
PAPP-A stands for
pregancy associated plasma protein - A
-
What is the optimal gestational age for the measurement of fetal NT?
11 weeks to 13 weeks 6 days
-
What should the CRL be to assess fetal NT?
4.5 cm to 8.4 cm
-
Where should the calipers be placed to measure a fetal NT?
on the borders of the nuchal translucency and not in the nuchal fluid area
-
What is an abnormal fetal NT?
above 3 mm
-
What indicates a greater chance of chromosomal anomaly or other defects such as congenital heart disease when measuring the NT?
the thicker the NT above 3 mm
-
Masse of the nose and upper lip may indicate what anomaly?
cleft lip
-
macroglossia and organomegaly is a condition found in what fetal syndrome?
Beckwith-Wiedemann Syndrome
-
What is palladini's formula for diagnosing micrognathia?
What is considered positive?
- AP mandible Diam/BPD X 100
- An index of 21 or less
-
Micrognathia is associated with what 3 groups of conditions?
chromosome anomalies, skeletal dysplasias, primary mandibular disorders
-
What condition occurs caused by micrognathia which inhibits the fetus from swallowing amniotic fluid?
polyhydramnios
-
What views can be used to demonstrate the fetal ears?
parasagittal plane or coronal plane
-
What syndrome includes malformations of the ear, anophthalmia, and hemifacial microsomia?
Goldenhar's syndrome
-
What syndrome results in small fetal ears?
robert's syndrome
-
another name for lacrimal duct cysts
dacryocystoceles
-
This has aided in the early detection of ocular anomalies and other intracranial abnormalities.
endovaginal sonography
-
absence of the nose
arhinia
-
Evaluation of the nasal triad should assess?
- 1 nostril symmetry
- 2 nasal septum integrity
- 3 continuity of the upper lip to exclude cleft lip and palate
-
a fissure or opening of the lip
cleft lip
-
What is the most common congenital anomaly of the face?
cleft lip
-
Oblique and asymmetrical clefts may occur with what syndrome
amniotic band syndrome
-
name the causes of cleft lips
familial predisposition, trisomies (13, 18, 21) triploidy and tranlocations, acrocephalopolysyndactyly, amniotic band syndrome, anencephaly, congenital cardiac disease, diastrophic dysplasia, holoprosencephaly, Kniest dysplasia, spondyloepiphyseal dysplasia congenita, Meckel-Gruber, Roberts', and multiple pterygrium syndromes
-
what is the most common neck mass?
cystic hyroma colli (lymphatic obstruction)
-
caused by incomplete merging of the two medial nasal prominences in the midline
median cleft lip
-
failure of maxillary prominence to merge with the lateral nasal swelling, with exposure of the nasolacrimal duct
oblique facial cleft
-
large gap in upper lip on modified coronal view; nose is flattened and widened; a premaxillary mass may be present
complete bilateral cleft lip and palate
-
incomplete fusion of maxillary prominence to the medial prominence on one side; modified coronal view
unilateral complete cleft lip and palate
-
nose is intact; modified coronal view of lip
incomplete cleft lip
-
Fetal cystic hygroma can lead to what condition and fetal death?
fetal hydrops
-
A cystic hygroma with fetal hydrops carries a ___% of mortality.
100
-
If a fetus has both hypo and hyper thyroid antibodies what test may be nescessary to evaluate the fetal thyroid?
PUBS percutaneous umbilical blood sampling
-
Neck teratomas are usually _____ and located ______.
-
condition associated with anencephaly in which there is complete or partial absence of the cranial bones
acrania
-
most sever form of holoprosencephaly characterized by a single common ventricle and malformed brain; orbital anomalies range from fused orbits to hypotelorism, with frequent nasal anomalies and clefting of the lip and palate
alobar holoprosencephaly
-
neural tube defect characterized by the lack of development of the cerebral and cerebellar hemispheres and cranial vault; this abnormality is incompatible with life
anencephaly
-
an abnormality or congenital malformation
anomaly
-
form of holoprosencephaly characterized by a common ventricle, hypotelorism, and a nose with a single nostril
cebocephaly
-
severe form of holoprosencephaly characterized by a common ventricle, fusion of the orbits with one or two eyes present, and a proboscis (maldeveloped cylindrical nose)
cyclopia
-
an increase in size of the jugular lymphatic sacs because of abnormal development
cystic hygroma
-
a range of abnormalities from abnormal cleavage of the forebrain
holoprosencephaly
-
congenital absence of the cerebral hemispheres because of an occlusion of the carotid arteries; midbrain structures are present, and fluid replaces cerebral tissue
hydranencephaly
-
ventriculomegaly in the neonate; abnormal accumulation of cerebrospinal fluid within the cerebral ventricles, resulting in compression and frequently destruction of brain tissue
hydrocephalus
-
enlargment of the fetal cranium as a result of ventriculomegaly
macrocephaly
-
open spinal defect characterized by protrusion of the spinal meninges
meningocele
-
open spinal defect characterized by protrusion of meninges and spinal cord through the defect, usually within a meningeal sac
meningomyelocele
-
neural tube defect of the spine in which the dorsal vertebrae (vertebral arches) fail to fuse together, allowing the protrusion of meninges and/or spinal cord through the defect; two types exist; spina bifida occulta (skin-covered defect of the spine without protrusion of the meninges or cord) and spina bifida cystica (open spinal defect marked by sac containing protruding meninges and/or cord)
spina bifida
-
closed defect of the spine without protrusion of meninges or spinal cord; alpha-fetoprotein analysis will not detect these lesions
spina bifida occulta
-
abnormal accumulation of cerebrospinal fluid within the cerebral ventricles resulting in dilation of the ventricles; compression of developing brain tissue and brain damage may result; commingly associated with additional fetal anomalies
ventriculomegaly
-
The CNS arises from the ____ ____ ____ at around __ gestational days.
- ectodermal neural plate
- 18
-
the forebrain develops into the
prosencephalon
-
the midbrain develops into the
mesencephalon
-
the hindbrain develops into the
rhombenencephalon
-
the prosencephalon divides into
the telencephalon and diencephalon
-
the rhombenencephalon divides into the
metencephalon and myelencephalon
-
what 2 regions does the spinal cord divide into
- alar plate region
- basal plate region
-
the alar plate region of the spinal cord matures into what
the sensory region of the cord
-
the basal plate region of the spinal cord develops into the
motor region
-
Neural function begins at what week of gestation
6 weeks
-
at what months of gestation is a fetus capable of gripping and respiratory movement?
4th and 5th months
-
what is the most common neural tube defect?
anencephaly
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