110 results
Article
Dandy-Walker malformation
Dandy-Walker malformation (DWM) is the most common posterior fossa malformation, characterised by the triad of:
hypoplasia of the vermis and cephalad rotation of the vermian remnant
cystic dilatation of the fourth ventricle extending posteriorly
enlarged posterior fossa with torcular-lambdoi...
Article
Azygos anterior cerebral artery
An azygos anterior cerebral artery (sometimes spelt azygous) is a rare variant of the circle of Willis where the two A1 segments of the anterior cerebral artery (ACA) join to form a single trunk. As a result, there is no anterior communicating artery. This organisation is similar to that seen in...
Article
Meckel-Gruber syndrome
Meckel-Gruber syndrome (MGS) is classically characterised by the triad of:
renal cystic dysplasia: multiple renal cysts (present in most cases)
occipital encephalocele / holoprosencephaly (~70%)
postaxial polydactyly: usually hexadactyly (~65%)
Additional hepatic developmental defects and he...
Article
Smith-Lemli-Opitz syndrome
Smith-Lemli-Opitz syndrome (SLOS) also known as 7-dehydrocholesterol reductase deficiency or RSH syndrome, is an inborn error of cholesterol synthesis.
Epidemiology
The estimated incidence is at 1:20,000-40,000 live births. Prevalence may be greater in Nordic countries.
Associations
Hirschs...
Article
Coloboma
Coloboma is a collective term encompassing any focal discontinuity in the structure of the eye and should not be confused with staphylomas which are due to choroidal thinning.
Terminology
While coloboma is the collective term for any focal discontinuity in the eye's structure, many people use...
Article
Enlarged echogenic fetal kidneys
Enlarged echogenic fetal kidneys are described as kidneys where the echogenicity of the entire kidney exceeds that of the liver. They can be associated with a number of pathologies that include:
autosomal recessive polycystic kidney disease (ARPKD) 1
associated with severe oligohydramnios, ver...
Case
Alobar holoprocencephaly
Published
20 Jun 2022
80% complete
CT
Case
Hydranencephaly
Published
05 Mar 2022
77% complete
MRI
Case
Cyclopia with proboscis
Published
25 Jan 2014
72% complete
Ultrasound
Case
Azygos anterior cerebral artery
Published
12 Jun 2021
95% complete
MRI
Case
Alobar holoprosenencephaly
Published
16 Sep 2014
95% complete
MRI
Case
Azygos anterior cerebral artery
Published
21 Apr 2017
90% complete
Annotated image
CT
Case
Calvarial thickening from chronic ventricular shunting
Published
23 Jan 2019
89% complete
MRI
Case
Syntelencephaly
Published
07 Jul 2021
89% complete
MRI
Case
Atretic occipital cephalocele
Published
18 Oct 2020
89% complete
MRI
CT
Case
Severe hydrocephalus (antenatal)
Published
30 Dec 2012
66% complete
Ultrasound
Case
Postaxial polydactyly of the foot
Published
26 Feb 2021
88% complete
X-ray
Case
Hydranencephaly
Published
14 Dec 2021
83% complete
MRI
Case
Syntelencephaly
Published
05 Aug 2009
80% complete
MRI
Case
Congenital nasal pyriform aperture stenosis
Published
28 Aug 2022
80% complete
CT
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