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Neurulation
the process by which the neural tube is formed (begins 21-23 days after conception)
after closure the rostral neuropore evolves into 3 primary vesicles
prosencephalon (forebrain)
mesencephalon (midbrain)
rhombencephalon (hindbrain)
visualization of the rhombencephalon as early as
8 menstrual weeks
ossification centers; appears as 3 echogenic foci
1 centrally located in the vertebral body
2 laterally located between the laminae and pedicles in the posterior vertebral element
hydrocephalus
congenital enlargement of the ventricular system (DWM agenesis of the corpus colusum; meningomyelocele)
hydrocephalus is aka
ventriculomegaly
hydrocephalus Sono signs
increased lateral ventricle atrial diameter (>10mm) and the presence of a “dangling choroid”
dolichocephally
a head larger than average relative to it’s width
brachycephaly
a skull shorter than average
hydranencephaly
the near or total absence of the cerebral hemispheres in the presence of a normally developed meninges and skull
holoprosencephaly
is a malformation sequence in which the forebrain fails to develop normally (presents of a single primitive ventricle)
3 types
alobar
semilobar
lobar
dandy-walker malformation
is a cystic abnormality of the posterior fossa characterized by the absence or severe dysgenesis of the cerebellar vermis with opportunistic filling of the space with CSP
vein of Galen aneurysm/malformation
is a arteriovenous malformation originating in the median prosencephalic vein in the mid portion of the fetal brain
Agenesis of the corpus callosum(ACC)
a teratogenic insult early (8-12 weeks) can result in complete ACC or in partial dysgenesis of its normal architecture (colpocephaly, absence of the CSP)
microcephaly
is a condition characterized by an abnormally small and underdeveloped brain and skull
cebocephaly
common ventricle hypotelerism and a nose with a single nostril
anencephaly
most common open neural tube defect and results from the incomplete closure of the cranial portion of the neural tube
exencephaly (acranial)
a rare congenital anomaly characterized by partial or complete absence of the calvaria with complete but abnormal development of the brain tissue
cephalocele/encephalocele
incomplete closure of the rostral end of the neural tube may also result in focal defects of the bony calvaria through which intracranial contents
cephalocele
protruding lesion consists of only meninges (mekelgruber syndrome)
encephalocele
if brain tissue accompanies the herniated meninges
spina bifida
is a neural tube defect resulting from the failure of the vertebral column to close during neurulation (yellow fruits)
lemon sign
overlapping of the frontal bones, creating a lemon-shaped fetal head
banana sign
effacement of the cisterna magna due to downward displacement of the cerelebellum
myelocele
meninges are present
myelomeningocele
meninges and neural tissue are present
rashischisis
rare, severe form where the entire spinal canal is splayed open posteriorly from the neck to the sacrum
rhizomelia
shortening of the proximal segment of an extremity
mesomelia
shortening of the distal segment of an extremity
micromelia
shortening of both proximal and distal segments of extremity
amelia
absence of an extremity
meromelia
partial absence of a limb
polydactyly
presence of more than 5 digits on a single hand or foot
syndactyly
soft tissue or bony fusion of digits
osteochondrodysplasia aka
skeletal dysplasias or short limb dysplasias
fetuses with notable short limbs before 20 menstrual weeks are usually lethal at birth
osteochondrodysplasias
achondrogenesis
rare, lethal form of short-limb dysplasia in which there is virtually no ossification of the vertebral bodies
achondrogenesis type I
parenti-fraccaro achondrogenesis
achondrogenesis type II
langer-saldino achondrogenesis
achonfroplasia
is a genetic disorder that affects normal growth and development of the skeletal system (most common cause of short-limb dwarfism; may not be evident until after 22 weeks)
thanatophoric dysplasia
extreme rhizomelia, bowed long bones, a hypoplastic thorax with normal trunk length, a large head
short rib-polysactyly syndrome (SRPS)
short limbs, excessive number of digits, and an extremely narrowed thorax
campomelic dysplasia
rare, bowing of the distal tibia and/or short fibula
chondroectodermal dysplasia
disproportionate and irregular shortened extremities, polydactyly, and narrowed thorax (ellis-van creveid syndrome-amish)
diastrophicdiastrophy dysplasia
associated with micromelia and hitch hiker thumb
osteogenesis imperfecta (OI)
hypomineralization of bone, resulting in abnormal fragility of skeletal structures (type 2 is more severe)
hypophosphatasia
deficiency of serum alkaline phosphatase that causes fetal long bone shortening with deep cupping of the metaphyses, short ribs with fragmentation, and skull may be markedly underossified
talipes equinovarus
inversion of the foot and flexion of the sole, the foot is deviated from the normal position
rocker bottom foot
dorsal and lateral dislocation of the talonavicular joint and a prominent calcaneus mimicking the appearance of the rocker of a rocking chair
craniosynostosis
premature closure of cranial sutures