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fetal face/neural ax
| Question | Answer |
|---|---|
| what is the clover leaf skull associated with | thanatophoric dysplasia |
| what can prominent bossing be associated with (prominent, protruding forehead) | lemon head/spina bifida |
| what is a strawberry shaped cranium | bulging of frontal bones and wide occiput |
| what is craniosyntosis | sutures that close too early and cause abnormal shaped skull-cloverleaf- may be associated with thanatophoric dysplasia and or ventriculomegaly |
| what is mid face hypoplasia | depressed or absent nasal bone (best seen in the profile view) |
| what is the most common form of FND (frontonasal dysplasia) | ocular hypertelorism hypertelorism - increased infraorbital space hypotelorism - decreased infraorbital space |
| what is an epiganthus | very rare form of a teratoid tumor that arises from the oropharyngeal region |
| macroglossia | enlarged tongue (associated with beckwith-wiedemann syndrome) |
| proboscis | rare congenital anomaly where an anterior appendage -like structure is seen projecting from the midline fetal face/forehead. (subtypes depend on location) |
| microganthia | small mandible (high association rate with chromosomal abnormalities) |
| otocephaly | rare anomaly where absence of the mandible causes the ears to form close together anteriorly and toward the neck |
| hypotelorism | decreased intraorbital distance |
| hypertelorism | increased intraorbital distance |
| micropthalmia | small eyes |
| anopthalmia | absent eyes |
| exopthalmia | an abnormal condition characterized by a marked protrusion of the eyeballs |
| cyclopia | one eye or 2 eyes fused into 1 |
| cleft lip (25%) only occurs because of?... | failure to fuse primary and secondary palate |
| cleft palate (25%) only occurs when.... | lateral palatine processes fail to fuse in midline |
| cleft lip AND palate occur together when.... | both fusions are absent |
| median cleft lip | midline malformation with/without cleft palate. when the entire area below the nose is absent |
| when imaging an NT what landmarks of the brain should be included | CSP, 3rd ventricle, cerebellum and CM. |
| cystic hygroma | lymph-filled cavities around the neck |
| cystic hygroma results from.. | malformation of lymphatic system that leads to single or multiloculated lymph-filled cavities around the neck |
| cystic hygromas most commonly arise from the... | neck |
| symmetrical, solid, and homogeneous mass, arising from the anterior fetal neck in the region of the fetal thyroid gland | fetal goiter |
| CNS arise from ..... around what gestational days? | CNS arises from ectodermal neural plate around 18 gestational days |
| cephalic neural plate develops into | forebrain |
| caudal ends forms... | spinal cord |
| brain is originally composed in to how many parts | 3 |
| brain divides into how many parts | 5 |
| man y of congenital malformations of CNS result from | incomplete closure of neural tube |
| the cerebrum consists of what lobes | frontal, parietal, temporal and occipital |
| within the interhemispheric fissure is a double fold of the dura mater, this is called the .... | falx cererbi |
| what does the corpus callosum do | connects the right and left hemispheres and allows for the communication between the 2 lobes |
| the CSP is midline and anterior between the | between the frontal horns of the lateral ventricles |
| when should the CSP be images | after 18 weeks |
| how many lobes is the thalamus | 2 |
| what is in-between the thalamus | the third ventricle |
| how many ventricles are there | 4 |
| from superior to posterior what are the four ventricles | lateral ventricles (2), 3rd ventricle, 4rth ventricle |
| lateral ventricles are on either side of the .. | falx |
| what does the lateral ventricles contain | the choroid plexus |
| what does the choroid plexus do? | produces CSF and becomes smaller during fetal growth |
| where is the glomus of the CP found | at the junction of the body of the lateral ventricle with the occipital horn of the lateral ventricle and the temporal horn of the lateral ventricle |
| where is the first place that ventriculomegaly is typically found | lateral ventricles |
| in the first trimester will the CP fill the entirety of the lateral ventricle OR grow with the baby | it will fill up the entirety of the LV and REGRESS as the baby will grow |
| when does the CP begin to recede and what direction does it reced | |
| fetal ventriculomegaly is defined as | >10mm across the atria of the posterior or anterior horn of the LV at any point of gestation |
| alternatively for fetal ventriculomegaly, is a separation of more then ... of the CP from the medial wall of the LV | 3mm |
| LV communicate with the 3rd ventricle by way of the | foramen of Monro |
| the 3rd ventricle communicates with the 4th ventricle by way of the | aqueduct of Sylvius |
| the CM is what to the cereblum | posterior |
| what is the posterior fossa of the brain | cerebellum |
| the two hemispheres of the cerebellum are connected by the | cerebellar vermis |
| what shape is the cerebellar vermis | dumbbell |
| most severe form of cranial neural tube defect (NTD) | anencephaly |
| anecephaly | characterized by the absence of cortical tissue and the cranial vault. |
| what are the mildest and severest forms of anencephaly | merocrania (mild) and holocrania (severe) |
| what is one of the most common neural tube defects | anecephaly |
| acrania | without cranium (AKA exencephaly) |
| what manifests as absence of cranial bones with presence of complete, although, abnormal, development of cerebral hemispheres | acrania |
| neural tube defect in which the meninges alone or meninges and brain herniate through defect in calvarium | (en)cephalocele |
| an encephalocele most commonly involves what bone? | the occipital bone |
| polyhydramnios | buildup of increased amniotic fluid in the uterus during pregnancy. |
| spina bifida | cleft or opening in the spine |
| will the maternal serum AF be abnormal or normal with spina bifida? | normal (spina bifida is extremely hard to detect in fetus) |
| when defect involves only protrusion of meninges; what is it termed? | meningocele |
| spina bifida occulta | opened posterior vertebral body |
| meningocele | protrusion of the meninges |
| myelomeningocele | protrusion AND opened spinal cord |
| Chiari ii malformation is relatively common congenital malformation of the spine and posterior fossa characterized by myelomeningocele and a small.... | posterior fossa with descent of the brainstem. also associated with the banana cerebellum sign and the lemon head |
| associated cranial findings with spina bifida | lemon head shape, banana cerebellum, disappearance of cisterna magna, ventriculomegaly |
| sacrococcygeal teratoma | rare tumor arising from cells of the sacrum/coccyx, may be benign/immature/malignant, hyper vascular and solid, may protrude internally or externally, increased AFP and hydrops |
| complete or partial absence of cerebellar vermis with resulting dilation on fourth ventricle and enlargement of posterior fossa. communicated with 4rth vent. | Dandy Walker syndrome |
| what are the three main types of dandy walker complex | DWM with an elevated tentorium Dandy-walker variant manifests with cystic dilation of the fourth ventricle and hypoplasia of the cerebellar vermis without an enlarged post fossa megacisterna magna (MCM), enlarged CM (>10mm) |
| what are some sonographic signs of Dandy walker syndrome | splaying of cerebellar hemispheres as result of complete or partial agenesis of cerebellar vermis enlarged cisterna magna caused by cerebellar vermis anomaly and posterior fossa cyst ventriculomegaly |
| holoprosencephaly | abnormal cleavage of prosencephalon (forebrain) |
| up to what percent of cases in holoprosencephaly is associated with chromosomal anomolies | 50% |
| what are the three forms of holoprosencephaly | most severe,, alobar (monoventricle, fused thalami, absence of falx cerevri) intermediate,, semilobar (partial separation of ventricles and hemispheres with occipital lobe present, incompletely fused thalami) mildest,, lobar (norm separation of thalami |
| common features of holoprosencephaly | common c-shaped ventricle that may or may not be enlarged brain tissue with horseshoe shape as it surround monoventricle fusion of thalamus, no third ventricle absence of interhemispherid fissure dorsal sac no corp call no CSP |
| singular monoventricle brain tissue that is small. cup, ball, pancake configuration. fusion of thalamus, NO interhemispheric fissure, CSP, corpus callosum, optic trancts or olfactory bulbs | alobar holoprosencephaly |
| singular ventricular cavity with partial formation of occipital horns. partial or complete fusion of thalamus. NO CSP or olfactory bulbs | semilobar holoprosencephaly |
| almost complete division of ventricles with corpus callosum that may be normal, hypoplastic, or absent. NO CSP | lobar holoprosencephaly |
| what is the corpus callosum | fibrous tract that connects the cerebral hemispheres and helps the hemispheres communicate with one another |
| at what week should the development of the corpus callosum be finished by | 20 |
| absence of corpus callosum, no CSP, elevation and dilation of 3rd vent | agenesis of corpus callosum |
| the corpus callosum begins to develop at around what weeks | 12 |
| what can aquaductal stenosis result from | obstruction, atresia, or stenosis of the aqueduct Sylvius, causing ventriculomegaly |
| aqueduct of sylvius connects what together | third and fourth ventricle |
| ventricular enlargement of lateral ventricles, third ventricular dilation, flexion and adduction of thumb | aquaductal stenosis |
| vein of galen aneurysm | (AKA galen malformation) rare arteriovenous malformation, vein will be enlarged and communicate with normal-appearing arteries, male predominance, usually isolated anomaly |
| cystic space- may be irregular in shape and located midline and posterosuperior to third ventricle. turbulent flow with Doppler evaluation | vein of Galen aneurysm |
| round or ovoid anechoic structures found within the choroid plexus | choroid plexus cyst |
| choroid plexus cysts are common and may resolve by weeks... | 22-26 weeks |
| cysts filled with cerebrospinal fluid that communicate with ventricular system or subarachnoid space | porencephalic cysts (passage or opening) |
| what are the associated anomalies with porencephalic cysts | there are none |
| cyst within brain parenchyma without mass effect, communication of cyst with ventricle or subarachnoid space, reduction in size of affected hemisphere, may cause midline shift and contralateral ventricular enlargement | porencephalic |
| rare disorder characterized by clefts in cerebral cortex | schizencephaly |
| what area do clefts usually effect | sylvian fissure |
| destruction of cerebral hemispheres by occlusion of internal carotid arteries | hydranencaphaly |
| what happens to the brain parenchyma with hydranencephaly | it is destroyed and replaced with cerebrospinal fluid |
| will any cerebral tissue be seen with hydranencephaly | no |
| what are the two causes for hydranencephaly | congenital infection (cytomegalovirus and toxoplasmosis) or ischemia |
| absence of normal brain tissue with almost complete replacement by cerebrospinal fluid, presence of midbrain, basal ganglia, and cerebellum | hydranencaphaly |
| ventriculomegaly coupled with enlargement of fetal head due to an increase volume of CSF | hydrocephalus |
| what is communication hydrocephalus | obstruction that is outside the ventricular system (ex. arachnoid cyst) |
| what is noncommunicating hydrocephalus | caused from ventricular defect (ex. aqueductal stenosis) |
| common cause of ventriculomegally | spina bifida and encephaloceles |
| ventricle are considered dilated when its diameter is over... | 10mm |
| what is the 'dangling choroid sign' a key marker for | hydrocephaly |
| microcephaly | abnormally small head that falls 3 standard deviations below the mean |
| why does microcephaly occur | reduced brain size |
| what are the structures that should be seen for a BPD and HC measurements | level @ CSP, thalamus, falx cerebri --- level of 3rd vent between thalamus leading edge to edge |
| how do you measure binocular distance | measured from the lateral orbital rim to the lateral orbital rim |