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.
704 results found
Article
Jacobsen syndrome
Jacobsen syndrome, also known as the chromosome 11q deletion syndrome, is a rare chromosomal anomaly that results from deletion of the terminal region of chromosome 11. It results in intellectual disabilities, a distinctive facial appearance and a variety of physical problems including heart def...
Article
Coffin-Lowry syndrome
Coffin-Lowry syndrome (CLS) is a rare X-linked genetic syndrome affecting multiple body parts.
Epidemiology
The condition tends to affect males much more due to its X-linked inheritance. The estimated incidence is at around 1:40,000-50,000.
Clinical presentation
It is characterized by a numb...
Article
Noonan syndrome with multiple lentigines
Noonan syndrome with multiple lentigines, previously known as LEOPARD syndrome (LS), is a rare autosomal dominant RASopathy that has many similarities to Noonan syndrome.
Clinical presentation
Despite a change in formal name, the 'LEOPARD' acronym is still useful to summarize the clinical feat...
Article
Acrodysostosis
Acrodysostosis is a rare skeletal dysplasia characterized by growth restriction, nasal hypoplasia, brachydactyly, midfacial deficiency, intellectual disability and deafness.
Clinical presentation
The cardinal clinical features include, short hands with stubby fingers and similarly affected fee...
Article
Lowe syndrome
Lowe syndrome, also known as the oculocerebrorenal syndrome of Lowe, is a multisystem disorder characterized by anomalies primarily affecting the eyes, nervous system, and kidneys.
Epidemiology
It is an extremely rare, pan-ethnic disease, with an estimated prevalence in the general population ...
Article
Nijmegen breakage syndrome
Nijmegen breakage syndrome, also known as Seemanova syndrome or Berlin breakage syndrome, is a rare autosomal recessive syndrome of chromosomal instability.
Clinical presentation
microcephaly present at birth and
progressive with age
dysmorphic facial features
mild growth restriction/delay...
Article
1p36 deletion syndrome
1p36 deletion syndrome, or monosomy 1p36, is a chromosomal abnormality characterized most commonly by a deletion in the distal segment of the short arm of chromosome one 1.
Epidemiology
The 1p36 deletion syndrome is present in approximately 1 in 5,000 live births. It is the most common termina...
Article
Barth syndrome
Barth syndrome (BTHS), also known as 3-methylglutaconic aciduria type II, is an extremely rare X-linked multisystem disorder that is usually diagnosed in infancy.
Epidemiology
Barth syndrome has an estimated prevalence of 1 in 300,000-400,000 live births.
Clinical presentation
It is characte...
Article
Postaxial polydactyly
Postaxial polydactyly refers to polydactyly where the additional digit is on the ulnar margin of the hand, or lateral to the 5th (little) toe.
Epidemiology
Postaxial polydactyly is more common than preaxial polydactyly, with an estimated incidence of 1 in 3000 5.
Associations
trisomy 13
Bar...
Article
Febrile infection-related epilepsy syndrome (FIRES)
Febrile infection-related epilepsy syndrome (FIRES) is a severe postinfectious neurological disorder that presents with new-onset refractory status epilepticus (NORSE) in a previously normal child (or less commonly adult) after a febrile illness.
Terminology
FIRES has received several names in...
Article
Trichorhinophalangeal syndrome type II
Trichorhinophalangeal syndrome type II, also known as Langer-Giedion syndrome, is an extremely rare autosomal dominant genetic disorder.
Pathology
The effects are seen mainly on the skeletal system and primarily involves
hair: "tricho-"
nose: "rhino-"
digits of the hands and feet: "-phalang...
Article
Calcineurin-inhibitor induced pain syndrome
Calcineurin-inhibitor-induced pain syndrome (CIPS) describes a reversible acute pain syndrome that occurs in patients with transplants taking calcineurin inhibitors as immunosuppressive therapy to prevent transplant rejection 1. The most common calcineurin inhibitors prescribed following organ t...
Article
Cowden syndrome
Cowden syndrome, also known as multiple hamartoma syndrome, is characterized by multiple hamartomas throughout the body and increased risk of several cancers.
Terminology
Type 2 segmental Cowden syndrome is the association of Cowden syndrome with a Cowden nevus when it is considered a type of ...
Article
Twin embolization syndrome
Twin embolization syndrome (TES) is a rare complication of a monozygotic twin pregnancy following an in utero demise of the co-twin.
Pathology
It was traditionally thought to result from the passage of thromboplastic material into the circulation of the surviving twin which causes ischemic str...
Article
Milwaukee shoulder
Milwaukee shoulder refers to a destructive shoulder arthropathy due to the deposition of hydroxyapatite crystals, and identification of these crystals in synovial fluid is the cornerstone of diagnosis.
Epidemiology
Milwaukee shoulder frequently affects older women, often with a history of trau...
Article
Hereditary breast and ovarian cancer syndrome
Hereditary breast and ovarian cancer (HBOC) syndrome is caused by a mutation to either BRCA1 or BRCA2 genes. These patients have an increased risk of breast cancer, ovarian cancer, pancreatic cancer and prostate cancer. However, these gene mutations are not the only cause of hereditary breast ca...
Article
Lateral medullary syndrome
Lateral medullary syndrome, also known as Wallenberg syndrome, is a clinical syndrome caused by acute ischemia or infarction of the lateral medulla oblongata due to occlusion of the intracranial portion of the vertebral artery, PICA or its branches 1-3.
Epidemiology
20% of ischemic strokes oc...
Article
Spinoglenoid notch syndrome
Spinoglenoid notch syndrome is caused by compression of suprascapular nerve due to a ganglion cyst at the spinoglenoid notch resulting in shoulder pain and posterior shoulder tenderness.
Clinical presentation
On clinical examination, there is posterior shoulder tenderness, discomfort in extern...
Article
Anterior choroidal artery syndrome
Anterior choroidal artery syndrome is a rare entity caused by cerebral infarction in the anterior choroidal artery territory.
Clinical presentation
In its complete form, the syndrome is characterized by the triad of 7:
contralateral hemiplegia
contralateral hemisensory loss
contralateral ho...
Article
Glycogen storage disease
Glycogen storage disease (GSD) refers to a number of syndromes which are characterized by a defect in synthesis, metabolism or storage of glycogen.
Pathology
There are many types of GSD:
type I: von Gierke disease
type II: Pompe disease
type III: Cori or Forbes disease
type IV: Andersen di...
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