Articles

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More than 200 results
Article

Galloway-Mowat syndrome

Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized 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...
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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...
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Arterial switch procedure

The arterial switch procedure, also known as the Jatene switch procedure, is an intervention designed to correct the 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 ...
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Proteus syndrome

Proteus syndrome is a rare congenital, multisystemic, hamartomatous condition characterized 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...
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Medulloepithelioma of the brain

Medulloepitheliomas of the brain are rare, highly malignant, primitive embryonic tumors derived from the primitive medullary plate and neural tube. These tumors, once considered distinct entities, are now thought to be a pattern of embryonal tumors with multilayered rosettes. Please refer to tha...
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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...
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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...
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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...
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Center edge angle of Wiberg

The center-edge angle (CEA) of Wiberg is a measurement in the pelvis which is the angle formed by Perkin line and a line from the center 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...
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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 characterized by early brain overgrowth and body morphogenesis an...
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Bronchial atresia

Bronchial atresia is a developmental anomaly characterized 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...
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CLOVES syndrome

CLOVES syndrome is an acronym denoting a rare condition consisting of: Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi Skeletal/Scoliosis/Spinal anomalies Terminology Although first described as CLOVE the term "CLOVES" syndrome, with the "S" emphasizing the skeletal ...
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Pallister-Hall syndrome

Pallister-Hall syndrome displays a wide range of severity and is characterized 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...
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Diffuse brainstem glioma (historical)

Diffuse brainstem gliomas or diffuse intrinsic pontine gliomas was a term used to describe infiltrating astrocytomas arising in the brainstem, usually in children. It is no longer recognized as a distinct entity, removed from the 2016 update to the WHO classification of CNS tumors replaced by a ...
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Convolutional markings

Convolutional markings are normal impressions of the gyri on the inner table of the skull. They appear during the period of rapid brain development, typically between 3 and 7 years of age 4.  They are seen predominantly posteriorly. Anterior involvement of the skull is referred to as a copper b...
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Conotruncal cardiac anomalies

Conotruncal heart defects are a group of congenital cardiovascular anomalies involving the outflow tracts and great vessels. They are a leading cause of symptomatic cyanotic cardiac disease diagnosed in utero. Epidemiology They may account for up to a fifth of all congenital cardiac anomalies ...
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Bowing fracture

Bowing fractures are incomplete fractures of tubular long bones in pediatric patients (especially the radius and ulna) that often require no intervention and heal with remodeling. Epidemiology Bowing fractures are almost exclusively found in children. However, there have been several case repo...
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Cephalohematoma

Cephalohematomas are traumatic subperiosteal hematomas of the skull that are usually caused by birth injury. They are bound between the periosteum and cranium, and therefore cannot cross sutures. Being bound by a suture line distinguishes them from subgaleal hematoma, which can cross sutures. E...
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Interatrial septal aneurysm

Interatrial septal aneurysm or atrial septal aneurysm (ASA) is defined as an abnormal protrusion of the interatrial septum. The exact length of the protrusion that defines an interatrial septal aneurysm varies in the literature, ranging from >11 mm to >15 mm beyond normal excursion in adults 4,5...
Article

Tectal glioma

Tectal gliomas fall under the grouping of childhood brainstem gliomas and unlike the other tumors in that group they are typically low grade astrocytomas with good prognosis.  Epidemiology Tectal plate gliomas are encountered in children and adolescents 4. A male predilection has sometimes bee...

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