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.
1,434 results found
Article
Morquio syndrome
Morquio syndrome (in older literature it is sometimes called Morquio-Brailsford syndrome) is an autosomal recessive mucopolysaccharidosis (MPS) type IV.
Epidemiology
Incidence estimated at ~1:40,000.
Clinical presentation
Many cases present at ~2 years of age and have normal intelligence. Cl...
Article
Pelvic osteotomy
Pelvic osteotomy relates to an orthopaedic treatment for developmental acetabular dysplasia of the hip.
The main purpose of pelvic osteotomy is the prevention of early degenerative changes by stabilisation of the hip and redistribution of joint loading. It is obtained by surgical reshaping/remo...
Article
Prostaglandin-induced cortical hyperostosis in infants with cyanotic congenital heart disease
Prostaglandin-induced cortical hyperostosis in infants is a well-known side-effect from the treatment of cyanotic congenital heart diseases. Prostaglandin-E1 (injectable form), and prostaglandin-E2 (oral form) are E-type prostaglandins (PGE), that are commonly used in newborns with cyanotic cong...
Article
Multisystem inflammatory syndrome in children
Multisystem inflammatory syndrome in children (MIS-C) or paediatric inflammatory multisystem syndrome (PIMS) is an emerging paediatric disease occurring after prior SARS-CoV-2 infection and is therefore strongly associated with the ongoing COVID-19 pandemic.
Terminology
The World Health Organ...
Article
Muscle-eye-brain disease
Muscle-eye-brain disease, a part of the spectrum of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A3; MDDGA3), is a congenital muscular dystrophy with associated progressive eye and brain abnormalities.
Clinical presentation
There is severe intellectual di...
Article
Gastroschisis
Gastroschisis refers to an extra-abdominal herniation (evisceration) of fetal or neonatal bowel loops (and occasionally portions of the stomach and or liver) into the amniotic cavity through a para-umbilical anterior abdominal wall defect.
Epidemiology
The estimated incidence is around 1-6 per...
Article
Kawasaki disease
Kawasaki disease is a small to medium vessel vasculitis predominantly affecting young children. It can affect any organ but there is a predilection for the coronary vessels.
Epidemiology
Japan has the highest incidence in the world, with an annual incidence of 3 per 1000 children under the age...
Article
Galloway-Mowat syndrome
Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterised by nephrotic syndrome and central nervous system (CNS) abnormalities, namely microcephaly.
Epidemiology
Galloway-Mowat syndrome is considered extremely rare. Approximately 40 cases have been reported worldwide...
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
Arterial switch procedure
The arterial switch procedure, also known as the Jatene switch procedure, is an intervention designed to correct D-transposition of the great arteries (D-TGA) at the level of the aorta and main pulmonary artery. It is generally preferred over atrial switch procedures for simple D-TGA due to impr...
Article
Proteus syndrome
Proteus syndrome is a rare congenital, multisystemic, hamartomatous condition characterised by asymmetrical overgrowth of almost any part of the body and a broad spectrum of manifestations. It can affect tissue from any germinal layer.
Clinical presentation
Affected patients usually appear nor...
Article
Medulloepithelioma of the brain
Medulloepitheliomas of the brain are rare, highly malignant, primitive embryonic tumours derived from the primitive medullary plate and neural tube. These tumours, once considered distinct entities, are now thought to be a pattern of embryonal tumours with multilayered rosettes. Please refer to ...
Article
Heterotaxy syndrome
Heterotaxy syndromes refer to abnormal left/right distribution of thoracic and abdominal organs that is neither situs solitus nor situs inversus. They are frequently associated with congenital heart disease and other visceral abnormalities.
Terminology
Isomerism implies mirrored organs, and ca...
Article
Gastric volvulus
Gastric volvulus is a specific type of volvulus that occurs when the stomach twists on its mesentery. It should be at least 180° and cause bowel obstruction to be called gastric volvulus. Merely gastric rotation on its root is not considered gastric volvulus.
Epidemiology
Organo-axial volvulus...
Article
Congenital pouch colon
Congenital pouch colons are an anomaly in which there is cystic dilation of a shortened colon. They can either partially or totally replace the colon.
Pathology
Associations
Congenital pouch colons can be associated with vaginal or vestibular fistulas and less frequently with other genitourin...
Article
Centre edge angle of Wiberg
The centre-edge angle (CEA) of Wiberg is a measurement in the pelvis which is the angle formed by Perkin line and a line from the centre of the femoral head to the lateral edge of the acetabulum. It can be used to assess for conditions such as developmental dysplasia of the hip although only con...
Article
Megalencephaly-capillary malformation syndrome
Megalencephaly-capillary malformation (MCAP) syndrome, also known as macrocephaly-capillary malformation syndrome, is a rare and well described genetic disorder caused by somatic mutations in the PIK3CA gene on chromosome 3q26 and characterised by early brain overgrowth and body morphogenesis an...
Article
Bronchial atresia
Bronchial atresia is a developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus associated with hyperinflation of the distal lung.
On imaging, it commonly presents as a proximal focal tubular-shaped opacity radiating from the hilum associated with a dista...
Article
CLOVES syndrome
CLOVES syndrome is an acronym denoting a rare condition consisting of:
Congenital Lipomatous Overgrowth
Vascular malformations
Epidermal naevi
Skeletal/Scoliosis/Spinal anomalies
Terminology
Although first described as CLOVE the term "CLOVES" syndrome, with the "S" emphasising the skeletal...
Article
Pallister-Hall syndrome
Pallister-Hall syndrome displays a wide range of severity and is characterised by hypothalamic hamartomas seen as a mass at the floor of the third ventricle, posterior to the optic chiasm 3,4.
Epidemiology
Pallister-Hall syndrome is rare and the exact prevalence is unknown. Patients with posta...
Unable to process the form. Check for errors and try again.