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.
1,430 results found
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 amenorrhea with cyclic lower abdominal pain during menarche age. An imperforate hymen c...
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 tumor of the young
Polymorphous low-grade neuroepithelial tumor of the young (PLNTY) is an epileptogenic tumor of children and young adults. They are often considered part of the heterogeneous group of tumors known as long-term epilepsy-associated tumors (LEATs).
Terminology
First described in 2016 1, polymorpho...
Article
Hereditary spherocytosis
Hereditary spherocytosis (HS) (also known as Minkowski-Chauffard disease 1) is a group of hemolytic anemias 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 anemia.
Ep...
Article
Meckel diverticulum
Meckel diverticulum is a congenital intestinal diverticulum due to fibrous degeneration of the umbilical end of the omphalomesenteric (vitelline) duct that occurs around the distal ileum. It is considered the most common structural congenital anomaly of the gastrointestinal tract.
Epidemiology
...
Article
Pituitary stalk interruption syndrome
Pituitary stalk interruption syndrome, also known as pituitary stalk transection syndrome, is a syndrome characterized by an absent or hypoplastic anterior pituitary gland, thin or absent infundibulum, and ectopic posterior pituitary location.
Epidemiology
Pituitary stalk interruption syndrome...
Article
Acetabular angle
The acetabular angle, also known as Sharp angle 6, is a radiographic measurement most commonly used to evaluate potential developmental dysplasia of the hip (DDH) in children and acetabular dysplasia in adults.
Usage
The acetabular angle is used in patients who have started to ossify the epiph...
Article
Neuroblastoma (staging)
There are two methods of neuroblastoma staging; the International Neuroblastoma Risk Group Staging System (INRGSS, based on imaging of pre-treatment patients), and the International Neuroblastoma Staging System (INSS, based on the outcomes of surgery).
International Neuroblastoma Risk Group St...
Article
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 ...
Article
Neuroblastoma
Neuroblastomas are tumors of neuroblastic origin. Although they may occur anywhere along the sympathetic chain, the vast majority arise from the adrenal gland.
They represent the most common extracranial solid childhood malignancy and are the third commonest childhood tumor after leukemia and b...
Article
Hemoglobinopathies
A hemoglobinopathy is a genetic disorder which alters the structure of hemoglobin 1. The result is reduced oxygen-carrying capacity of the blood to the tissues, and other sequelae.
Clinical presentation
Clinical presentation varies, is related to hypoxia, and characteristically includes the fo...
Article
Lipomyelomeningocele
Lipomyelomeningoceles are one of the forms of closed spinal dysraphism. They usually present as a subcutaneous fatty mass just above the intergluteal cleft. However, some lipomyelomeningoceles may occur at other locations along the spinal canal.
Clinical presentation
Lipomyelomeningoceles may ...
Article
Kartagener syndrome
Kartagener syndrome (also known as Kartagener-Afzelius syndrome) is a subset of primary ciliary dyskinesia, an autosomal recessive condition characterized by abnormal ciliary structure or function, leading to impaired mucociliary clearance.
Epidemiology
The prevalence of primary ciliary dyski...
Article
Blepharophimosis
Blepharophimosis is a dysplasia of the eyelids characterized by horizontal shortening of the palpebral fissure. It is often associated with ptosis or telecanthus 2.
Blepharophimosis is a feature of Dubowitz syndrome and Smith Lemli Opitz syndrome.
Blepharophimosis, ptosis, and epicanthus inve...
Article
Waardenburg syndrome
Waardenburg syndrome is a rare neurocristopathy, with congenital pigmentary disorder secondary to an abnormal distribution of neural crest-derived melanocytes during embryogenesis resulting in patchy areas of depigmentation. It is considered in the investigation of congenital sensorineural deafn...
Article
Multicystic dysplastic kidney
Multicystic dysplastic kidney (MCDK) is a type of non-heritable pediatric cystic renal disease. It results in multiple cysts being formed in utero in the affected kidney.
Epidemiology
Unilateral incidence is estimated at 1:2500-4000. There may be a predisposition for the left kidney, a slightl...
Article
Pelviureteric junction obstruction
Pelviureteric junction (PUJ) obstruction/stenosis, also known as ureteropelvic junction (UPJ) obstruction/stenosis, can be one of the causes of obstructive uropathy. It can be congenital or acquired with a congenital pelviureteric junction obstruction being one of the commonest causes of antenat...
Article
Chiari I malformation
Chiari I malformation is the most common variant of the Chiari malformations and is characterized by a caudal descent of the cerebellar tonsils (and brainstem in its subtype, Chiari 1.5) through the foramen magnum. Symptoms are proportional to the degree of descent. MRI is the imaging modality o...
Article
Fetal lung interstitial tumor
Fetal lung interstitial tumor (FLIT) is a proposed designation for a rare primary lung mass detected prenatally or when the patient is up to 3 months old.
Epidemiology
Fetal lung interstitial tumors have a slight predominance in boys 1.
Clinical presentation
It can present with varying degre...
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