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103 Cards in this Set
- Front
- Back
when is fetal facial evaluation included in a diagnostic exam
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when there is a family history of facial malformations or another congenital anomaly is found
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fetuses with facial abnormalities usually have what other abnormalities
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chromosomal
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what hinders extensive facial screening
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bone shadowing
poor fetal positioning oligohydraminos maternal obesity |
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when can fetal facial features be indentified
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the end of the first trimester
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facial congenital anomalies affect?
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1in 600
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-bony defect in calvarium that may occur in the occipital or parietal region. May cause hypertelorism
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encephalocele
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what is another cause of off axis encephalocele
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amniotic band syndrome
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occurs when the amnion disrupts early in the embryonic stage, leaving strains of tissue within the uterus that may lead to a malformed fetus
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amniotic band syndrome
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what is the sonographic appearance of the eye lens
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echogenic circle within the orbit
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small eyes
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mcropthalmia
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absent eyes
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anopthalmia
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abnormal protrusion of the eye
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exopthalmia
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congenital disorder in which the embryonic prosencephalon fails to properly divide the orbits into two cavities
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cyclopia
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cyclopia is more common with which gender?
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female, and incompatible with life
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measurement of the lateral to the medial wall of the same orbit
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ocular diameter
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lengeth between orbits
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interocular diameter
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lateral margin of one orbit to the lateral margin of the other orbit
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binocular diameter
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decreased distance between orbits
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hypotelorism/stenopia
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abnormally widely spaced orbits
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hypertelorism/euryopia
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associated with trisomy 13
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hypotelorism
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most accurate measurement for diagnosing hypertelorism
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interocular
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most common cause of hypertelorism
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anterior cephalocele; displaces orbits laterally
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hypertelorism associated with?
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craniosynostosis
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absence of external nasal structures and nasal passages
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arhinia
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tongue protrusion may suggest
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macroglossia
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enlarged tongue
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macroglossia
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macroglossia associated with
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beckwith-wiedemann syndrome
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if arhinia is suspected, what should the sonographer do?
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look for nostril symmetry, nasal septum and continuity of upper lip to exclude cleft lip and palate
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abnormal positioning of tongue may be indicative of?
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oral cavity mass
obstructive process macroglossia |
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teratoma in the oral cavty
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epignathus
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how are ears imaged
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parasaggital or coronal plane
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how often are ear malformations predicted perinatally?
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rarely
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low-set or small ears are indicative of?
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down syndrome
turner syndrome |
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opening or gap
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cleft
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clefting occurs when?
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when tissues of the lip and or palate of a fetus dont grow together early in pregnancy
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children with clefts often dont have?
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enough tissue in their mouth, and and they tissue they do have isnt fused together properly to form the roof of their mouths
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narrow opening or gap in the skin of the upper lip that extends all the way to the base of the nose
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cleft lip
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the opening between the roof of the mouth and the nasal cavity
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celft palate
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best view for imaging cleft lip and palate
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coronal
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clefting occurs mostly with
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trisomy 13 and 18
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which gender is affected more by clefting
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males
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clefting identified with an incidence how often
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1 in 700 births
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clefting associated more with which race?
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native americans
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what percentage of those affected with cleft lip will have cleft palate?
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80%
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isolated unilateral cleft lip commonly originates on which side of the face
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left
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which cleft palate is difficult to diagnose via ultrasound
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isolated
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small chin
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micrognathia
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best plane for visualizing the mandible
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saggital
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micrognathia can be ____ or _____
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incidental or associated with congenital anomalies
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cloverleaf skull
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craniosynostosis
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consists of premature fusion of one or more cranial sutures (coronal, saggital, or lambdoid) often resulting in an abnormal head shape
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craniosynostosis
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cloverleaf skull has been associated with ?
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skeletal dysplasias and ventriculomegaly
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what should findings should prompt for search for further malformations
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irregularities of the contour of the forehead
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conditon in which the number of chromosomes in the cell's nucleus is not exact
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aneuploidy
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1st trimester nuchal translucency is associated with
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aneuploidy
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accumulation of subcutaneous fluid or tissue in the nuchal area
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nuchal translucency
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causes of nuchal translucency
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trisomy 21, 13, 18,
skeletal dysplasia |
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most accurate transducer for nuchal translucency
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endovag
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time frame to perform nuchal translucency
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between 10-14wks
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abnormal measurement for nuchal translucency
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>3mm
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abnormal measurement for nuchal fold
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>6mm
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time frame to measure nuchal fold
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between 15&21wks
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when is the nuchal fold no longer accurate
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after 24wks
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how to measure nuchal fold
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outer edge of occipital bone to the outer edge of the skin
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nuchal fold is measure at the level of
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in the axial plane at the level of the csp and angling coronally to include the cerebellum and occipital bone
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results from a malformation of the lymphatic system at the level of the jugular
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cystic hygroma/cavernous lymphangioma
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characterized by single or multiple cystic areas within the soft tissue surrounding the neck
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cystic hygroma
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cystic hygroma assoicated with
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edema
fetal hydrops pleural effusion ascites polyhydraminos |
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cystic hygroma associated with
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chromosomal anomalies; turners & down syndrome
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___%occur in cervical region
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80%
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most common neck abnormality, elevated afp
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cystic hygroma
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1 in ___ pregnancies affected by cystic hygroma
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6000
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common location for neck teratoma
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anterolateral location
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may be so large that they obstruct the airway
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neck teratoma
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referred as neural tube defects
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anomalies of the fetal head
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occur when the embryonic neural tube fails to close
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neural tube defects
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most common neural defects
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anencephaly and spina bifida
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neural tube defects occur 1 in ____pregnancies
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1000
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causes of neural tube defects
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triploidy, trisomies 13& 18, maternal diabetes, seizure medication
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what supplement should the mother take during pregnancy to reduce chances of fetal neural tube defects
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4mg of folic acid (folate)
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how to screen for neural tube defects
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sonography, maternal serum screenng, amniocentesis
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most helpful portion of maternal serum screening for detecting neural tube defects
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msafp
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congenital anomaly in which the cerebral hemispheres and overlying skull are entirely absent
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anencephaly
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caused by failure of closure of the neural tube at the cranial end
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anencephaly
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besides neural tube defects, when will afp be elevated
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presence of gastroschisis
multiple gestations incorrect dating |
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afp exits through an opening in the
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neural tube
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order of afp production
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yolk sac, fetal gi tract, then fetal liver
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lethal disorder with high levels of afp
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anencephaly
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prevalence of anencephaly
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1 in 1000 in us
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anencephaly risk increases with
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diabetic mothers
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____% of anencephaly occurs as a first time event
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90%
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___%chance of anencephaly to recurr
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4%
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anencephaly affects which gender more? what is the ratio?
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male, 4:1
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which race is affected more ?
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white, 6:1 ratio to africans
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what country is anencephaly common
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united kingdom
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how early can anencephaly be dectected via u/s
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10-14wks
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____can mimic microcephaly
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anencephaly
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anomalies associated with anencephaly
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refer to page 10, slide 57
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developmental abnormality characterized by partial or complete absence of cranial vault with protrustion of brain tissue into amniotic cavity
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exencephaly (acrania)
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unlike anencephaly, brain tissue is always present with this abnormality
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exencephaly
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poor prognosis, brain tissue appears heterogeneous and disorganized
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exencephaly
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rare disorder; infant is born with a gap in the skull
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cephalocele
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outward herniation of CNS contents through a defect in the cranium, vast majority are midline
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cephalocele
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