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Search results for “spina bifida”

23 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

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....
Case

Acrania, exencephaly and spina bifida

 Diagnosis certain
Dr Ayush Goel
Published 15 Jun 2017
85% complete
Ultrasound
Case

Spina bifida: myeloschisis with Chiari II - prenatal diagnosis

 Diagnosis certain
Dr Fabien Ho
Published 17 Apr 2018
94% complete
Ultrasound
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

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

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...
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

VACTERL association

VACTERL is an acronym that describes a non-random constellation of congenital anomalies. It is not a true syndrome as such and is equivalent to the VATER anomaly. Epidemiology The estimated incidence is 1 in 10,000-40,000 births 3. Pathology The acronym VACTERL derives from: V: vertebral an...
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

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

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

Chiari II malformation

Chiari II malformations are relatively common congenital malformation of the spine and posterior fossa characterized by myelomeningocele (lumbosacral spina bifida aperta) and a small posterior fossa with descent of the brainstem and cerebellar tonsils and vermis. Numerous associated abnormalitie...
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

Anencephaly

Anencephaly is the most severe form of cranial neural tube defect (NTD) 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 holo...
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

Congenital talipes equinovarus

Congenital talipes equinovarus is considered the most common anomaly affecting the feet diagnosed on antenatal ultrasound. Terminology While some use talipes equinovarus and clubfoot synonymously, in certain publications, the term clubfoot is considered a more general descriptive term that des...
Case

Rachischisis

 Diagnosis certain
Dr Ayush Goel
Published 25 Apr 2021
79% complete
Ultrasound
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...

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