Articles
Articles are a collaborative effort to provide a single canonical page on all topics relevant to the practice of radiology. As such, articles are written and continuously improved upon by countless contributing members. Our dedicated editors oversee each edit for accuracy and style. Find out more about articles.
1,432 results found
Article
Joubert syndrome
Joubert anomaly, also known as vermian aplasia or molar tooth midbrain-hindbrain malformation, is an autosomal recessive disorder where there is a variable degree of cerebellar vermal agenesis.
Terminology
When associated with anomalies of the kidneys, liver and/or eyes the term Joubert syndr...
Article
Juberg-Hayward syndrome
Juberg-Hayward syndrome (JHS), also known as the oro-cranio-digital syndrome, is a rare autosomal recessive syndrome characterised by the association of the following:
growth restriction
microcephaly
cleft lip and palate
minor vertebral and rib anomalies 4
horseshoe kidneys 4
thumb anomal...
Article
Pituitary stalk interruption syndrome
Pituitary stalk interruption syndrome, also known as pituitary stalk transection syndrome, is a syndrome characterised by an absent or hypoplastic anterior pituitary gland, thin or absent infundibulum, and ectopic posterior pituitary location.
Epidemiology
Pituitary stalk interruption syndrome...
Article
Pulmonary hypoplasia
Pulmonary hypoplasia refers to underdevelopment of one or both lungs. This can be rapidly fatal at birth or mild, escaping detection for decades. It is most often secondary to congenital abnormalities that either restrict intrathoracic space or alter pulmonary fluid dynamics.
Epidemiology
Pulm...
Article
Fibrous dysplasia
Fibrous dysplasia (FD) is a developmental benign medullary fibro-osseous process characterised by the failure to form mature lamellar bone and arrest as woven bone that can be multifocal. It can affect any bone and occur in a monostotic form involving only one bone or a polyostotic form involvin...
Article
Donohue syndrome
Donohue syndrome, also known as leprechaunism, is a rare autosomal recessive form of insulin resistance syndrome with a distinctive phenotype including elfin facies and severe disturbances of glucose homoeostasis. It is universally fatal in early childhood.
Epidemiology
Donohue syndrome is ver...
Article
Cystic leukoencephalopathy without megalencephaly
Cystic leukoencephalopathy without megalencephaly, is an autosomal recessive inherited condition that manifests in the early childhood with moderate to severe intellectual disability, delayed milestones, and spasticity.
On imaging, it is characterised by bilateral anterior subcortical temporal ...
Article
Radiation effects on embryonic and fetal development
Radiation effects on embryonic and fetal development are generally considered low risk compared to the normal risks of pregnancy. Most diagnostic x-ray and nuclear medicine examinations are <50 mSv and have not been demonstrated to produce any significant impact on fetal growth and development. ...
Article
Delayed bone age
A generalised delay in skeletal maturation has different causative or aetiological factors, these can be classified as follows:
chronic ill health
congenital heart disease (especially cyanotic)
chronic renal disease
inflammatory bowel disease
malnutrition: failure to thrive (FTT)
rickets
...
Article
CASK related disorders
CASK related disorders are caused by mutations of the CASK gene and have a wide phenotypic spectrum, with a typically more disabling phenotype in females.
Clinical presentation
In males there may be intellectual disability and congenital nystagmus. In females there may only be intellectual di...
Article
Diffuse hemispheric glioma H3 G34 mutant
Diffuse hemispheric gliomas, H3 G34 mutant are rare and high grade infiltrating tumours typically presenting in adolescents and young adults.
Terminology
Diffuse hemispheric gliomas H3 G34 mutant have been included in the 5th Edition (2021) of the WHO brain tumour classification 1 among the "p...
Article
Sanjad-Sakati syndrome
Sanjad-Sakati syndrome, also known as hypoparathyroidism-intellectual disability-dysmorphism syndrome, is a rare autosomal recessive disorder.
Epidemiology
The syndrome is almost exclusively found in people of Arab origin. There is an equal distribution in both sexes.
Clinical presentation
h...
Article
Hypovitaminosis A
Hypovitaminosis A results from inadequate intake of vitamin A, fat malabsorption, or liver disorders and produces a variety of epithelial alterations.
Epidemiology
The World Health Organizatiοn currently estimates that 45-122 countries have a vitamin A deficiency of public health significance ...
Article
Osteopoikilosis
Osteopoikilosis is a sclerosing bony dysplasia characterised by multiple bone islands. It is a rare inherited benign condition incidentally found on skeletal radiographs. Its importance is predominantly in correct diagnosis so that it is not mistaken for pathology.
Epidemiology
The bone island...
Article
Focal cerebral arteriopathy of childhood
Focal cerebral arteriopathy of childhood (FCA), also known as transient cerebral arteriopathy (TCA), is characteristically an acute monophasic disease, with unilateral stenosis of the distal internal carotid artery and/or the proximal middle/anterior cerebral arteries, causing infarction in the ...
Article
Imperforate hymen
Imperforate hymen is a congenital condition in which the hymen lacks a normal opening.
Epidemiology
It happens in 0.1% of the female population, usually an isolated finding.
Clinical presentation
Primary amenorrhoea with cyclic lower abdominal pain during menarche age. An imperforate hymen ...
Article
Osteogenesis imperfecta
Osteogenesis imperfecta (OI) refers to a heterogeneous group of congenital, non-sex-linked, genetic disorders of collagen type I production, involving connective tissues and bones.
The hallmark feature of osteogenesis imperfecta is osteoporosis and fragile bones that fracture easily, as well a...
Article
Tubulinopathy
Tubulinopathies refer to a wide spectrum of cortical malformations that result from defects in genes encoding the tubulin protein that regulates neuronal migration during brain development.
Clinical presentation
Some series report a high prevalence of seizures during infancy which may be the i...
Article
Polymorphous low grade neuroepithelial tumour of the young
Polymorphous low-grade neuroepithelial tumour of the young (PLNTY) is an epileptogenic tumour of children and young adults. They are often considered part of the heterogeneous group of tumours known as long-term epilepsy-associated tumours (LEATs).
Terminology
First described in 2016 1, polymo...
Article
Hereditary spherocytosis
Hereditary spherocytosis (HS) (also known as Minkowski-Chauffard disease 1) is a group of haemolytic anaemias due to a genetic abnormality of the erythrocyte cell membrane resulting in spherocytes. The clinical spectrum is broad, from a subclinical state to severe transfusion-dependant anaemia.
...
Unable to process the form. Check for errors and try again.