49 results found
Article
Spina bifida
Spina bifida is a type of neural tube defect/spinal dysraphism which can occur to varying degrees of severity. It is often considered the most common congenital CNS malformation.
Terminology
Spina bifida in its strictest sense means defective fusion of the vertebral posterior elements, leading...
Article
Spina bifida occulta
Spina bifida occulta is the mildest form of spina bifida/spinal dysraphism and is a type of neural tube defect.
Terminology
While typically referring to asymptomatic posterior fusion defects, some authors 5 use it as a broad term that encompasses closed spinal defects such as:
diastematomyel...
Article
Rachischisis totalis
Rachischisis totalis, also known as complete spina bifida, refers to a severe form of spina bifida where there is a cleft through the entire spine.
Pathology
There is often a severe or complete defect of the neural tube involving the entire spine from the cervical region through to the sacrum....
Article
Clasp-knife deformity
Clasp-knife deformity is relatively common congenital anomaly found at the lumbosacral junction.
Terminology
When a clasp-knife deformity is accompanied by pain on extension secondary to protrusion of the enlarged spinous process (knife blade) into the sacral spinal canal, it is called clasp-k...
Article
Diastematomyelia
Diastematomyelia, also known as a split cord malformation, refers to a type of spinal dysraphism (spina bifida occulta) characterized by a longitudinal split in the spinal cord.
Terminology
Although traditionally, it has been distinguished from diplomyelia (in which the cord is duplicated rat...
Article
Banana sign (cerebellum)
The banana sign is one of the many notable fruit inspired signs.
This sign is seen on axial imaging through the posterior fossa of fetuses with associated conditions such as Chiari II malformation and/or spina bifida.
In Chiari II malformation, the banana sign describes the way the cerebellum...
Article
Spinal dysraphism
Spinal dysraphisms refer to a broad group of malformations affecting the spine and/or surrounding structures in the dorsum of the embryo. They are a form of neural tube defect.
Pathology
The neural tube is formed by the lengthwise closure of the neural plate, in the dorsum of the embryo.
The ...
Article
Posterior vertebral fusion anomalies
Posterior vertebral fusion anomalies are relatively common and should not be mistaken for fractures. They are thought to be both developmental and pathological (e.g. spondylolysis) but are typically asymptomatic and incidental, and considered as anatomical variants. There are six types of poster...
Article
Lemon sign
The lemon sign, noted on antenatal imaging, is one of the many notable fruit-inspired signs. It is a feature when there appears to be an indentation of the frontal bone (depicting that of a lemon). It is classically seen as a sign of a Chiari II malformation and also seen in the majority (90-98%...
Article
Craniorachischisis
Craniorachischisis, also known as craniorachischisis totalis, is a rare birth defect and the most severe of the neural tube defects. It refers to the presence of both anencephaly and spina bifida.
Epidemiology
In one study the prevalence of craniorachischisis was 0.51 per 10,000 live births in...
Article
Tethered cord syndrome
Tethered cord syndrome is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal canal.
Clinical presentation
Tethered cord syndrome is a clinical diagnosis based on neurologic deterioration involving the lower spinal cord 7. Patients ...
Article
Chiari II malformation
Chiari II malformations are relatively common congenital malformations of the spine and posterior fossa characterized by myelomeningocele (lumbosacral spina bifida aperta) and a small posterior fossa with descent of the brainstem, cerebellar tonsils, and vermis through the foramen magnum. Numero...
Article
Obstetric curriculum
The obstetric curriculum is one of our curriculum articles and aims to be a collection of articles that represent the core obstetric knowledge.
Definition
Topics pertaining to the normal and abnormal pregnancy, the gravid uterus and fetal environment, placenta, normal fetal development and fet...
Article
Tight filum terminale syndrome
Tight filum terminale syndrome, or tight filum syndrome, is a subtype of the tethered cord syndrome that is attributed to a thick, short, and/or otherwise inelastic filum terminale rather than other tethering agents.
Terminology
The term "tight filum terminale syndrome" is synonymous with "tet...
Article
Patau syndrome
Patau syndrome (also known as trisomy 13) is considered the 3rd commonest autosomal trisomy.
Patau syndrome, Down syndrome (trisomy 21), and Edwards syndrome (trisomy 18) are the only three trisomies compatible with extrauterine life. However, few infants with either Patau or Edwards syndrome l...
Article
Anencephaly
Anencephaly is the most severe form of cranial neural tube defect and is characterized by an absence of cortical tissue (although the brainstem and cerebellum may be variably present) as well as an absence of the cranial vault. The morphological spectrum within anencephaly ranges from holocrania...
Article
Klippel-Feil syndrome
Klippel-Feil syndrome is a complex heterogeneous entity that results in cervical vertebral fusion. Two or more non-segmented cervical vertebrae are usually sufficient for diagnosis.
Epidemiology
There is a recognized female predilection 1. Klippel-Feil syndrome has an incidence of 1:40,000-42,...
Article
Myelomeningocele
Myelomeningocele, also known as spina bifida cystica, is a complex congenital spinal anomaly that results in spinal cord malformation (myelodysplasia).
Epidemiology
It is one of the most common congenital CNS anomalies and is thought to occur in approximately 1:500 of live births 5. There may...
Article
Roberts syndrome
Roberts syndrome, also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, or Appelt-Gerken-Lenz syndrome, is a rare congenital malformation syndrome.
Clinical presentation
general
intrauterine growth restriction
postnatal growth and developmental delay
failure to thrive
t...
Article
Spondylolysis
Spondylolysis, commonly known as pars interarticularis defect or pars defect, is a defect in the pars interarticularis, the portion of the vertebral neural arch that connects the superior and inferior articular facets.
Epidemiology
Spondylolysis is present in ~5% of the population 2 and higher...
Unable to process the form. Check for errors and try again.