116 results found
Article
Aicardi syndrome
Aicardi syndrome is a rare severe developmental disorder. It results from an X-linked genetic defect that is fatal in males and therefore only manifests in females (except for rare 47, XXY cases).
Terminology
Aicardi syndrome is distinct from Aicardi-Goutieres syndrome although both are named ...
Article
Rocker bottom foot
A rocker bottom foot (also known as a congenital vertical talus) is a congenital anomaly of the foot. It is characterized by a prominent calcaneus/heel and a convexly rounded sole.
Pathology
It results from a dorsal and lateral dislocation of the talonavicular joint.
Associations
aneuploidic...
Article
Cephalocele
Cephalocele refers to the outward herniation of CNS contents through a defect in the cranium. The vast majority are midline.
Epidemiology
The estimated incidence is 0.8-4:10,000 live births 13 with a well recognized geographical variation between types; however, this has been speculated to be ...
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
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
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 commonest congenital CNS anomalies and thought to occur in approximately 1:500 of live births 5. There may be a...
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 retardation
failure to thrive
thrombocytope...
Article
Edwards syndrome
Edwards syndrome, also known as trisomy 18, along with Down syndrome (trisomy 21) and Patau syndrome (trisomy 13), make up the only three autosomal trisomies to be compatible with extrauterine life in non-mosaic forms, albeit in the case of Edward syndrome only for a week or so.
Epidemiology
...
Article
Lipomyelocele
Lipomyelocele, also known as lipomyeloschisis, is one of the most common closed spinal dysraphism. It is seen in the thoracolumbar region and usually presents as a fatty subcutaneous mass.
It is twice as common as lipomyelomeningocele.
Clinical presentation
Affected individuals are usually as...
Article
Charcot joint causes (mnemonic)
The causes of a Charcot joint can be remembered, using a mnemonic - with a little poetic license - as they (all) start with the letter S.
Mnemonic
s: sugar (diabetes)
s: syphilis
s: steroid use
s: syringomyelia
s: spinal cord injury
s: spina bifida
s: scleroderma
s: scaly disease (lepro...
Article
Fetal conditions associated with maternal diabetes
There are numerous fetal congenital anomalies associated with maternal diabetes.
They include
cardiac: congenital cardiac anomalies
ventricular septal defect (VSD) 5
conotruncal anomalies
transposition of the great arteries (TGA)
truncus arteriosus
fetal congestive cardiac failure (witho...
Playlist
Spina Bifida
2 cases
No description provided
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
Unfused spinous process
Unfused spinous process, which is really failure of fusion of the neural arch, is a relatively common anatomical variant and is part of the spectrum of spina bifida occulta.
This should be differentiated from accessory ossicles of the spinous process, which appear after non-fusion of the secon...
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...
Playlist
#DFTB - Spina Bifida
5 cases
Here are some great images, from the great contributors of Radiopaedia.org, to view in conjunction with our Spina Bifida week posts.
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