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.
705 results found
Article
≤11 ribs (differential)
≤11 ribs is associated with a number of congenital abnormalities and skeletal dysplasias, including:
Down syndrome (trisomy 21)
campomelic dysplasia
kyphomelic dysplasias
asphyxiating thoracic dysplasia (Jeune syndrome)
short rib polydactyly syndromes
trisomy 18
chromosome 1q21.1 deletion...
Article
18q deletion syndrome
18q deletion syndrome is a rare chromosomal anomaly where there is a deletion of part of the long arm of chromosome 18. Associated symptoms and findings vary widely, as do their severity. Characteristic clinical features include short stature, intellectual disability, hypotonia, facial, and dist...
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
4D syndrome
4D syndrome is a term used to describe a manifestation of syndromic glucagonoma, a type of pancreatic endocrine tumor.
D: dermatitis 2
necrolytic migratory erythema - a widespread rash, tending to involve perioral and perigenital regions
oral rashes (angular stomatitis, cheilitis)
tend to re...
Article
Aarskog syndrome
Aarskog syndrome or Aarskog–Scott syndrome (also known as the facio-digito-genital syndrome) is a rare anomaly characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia.
Epidemiology
Population pre...
Article
Aase-Smith syndrome
Aase-Smith syndrome (or Aase syndrome) is an extremely rare congenital disorder characterized by anemia and skeletal deformity.
Epidemiology
Aase-Smith syndrome has a prevalence of less than 1 per 1,000,000 persons. There have only been 20 reported cases.
Clinical presentation
congenital hyp...
Article
Abdominal compartment syndrome
Abdominal compartment syndrome is a disease defined by the presence of new end-organ dysfunction secondary to elevated intra-abdominal pressure. Radiological diagnosis is difficult and usually suggested when a collection of imaging findings are present in the appropriate clinical setting or if t...
Article
Abdominal migraine
Abdominal migraine is a syndrome that presents as recurrent episodes of severe paroxysmal abdominal pain, coupled with vasomotor symptoms, nausea, and emesis that lasts for at least 1 hour 3. Historically it has tended to be a pediatric diagnosis, but it is now increasingly seen in adults. It is...
Article
Ablepharon macrostomia syndrome
Ablepharon macrostomia syndrome is a very rare genetic disorder characterized by macrostomia, wide mouth and microblepharon.
Clinical presentation
A few of the clinical features of this syndrome are:
syndactyly
zygomatic hypoplasia
delayed speech
microtia
hypoplastic nipples
excessive ...
Article
Acardius anephus
Acardius anephus is a morphologic subtype of an acardiac twin in the twin reversed arterial perfusion (TRAP) sequence. In this entity, no cephalic or structures are present, but the lower limbs are preserved. This is the most common subtype, seen in 60-75% of cases1.
Article
Accessory navicular syndrome
The accessory navicular syndrome, also known as os naviculare syndrome occurs when a type II accessory navicular becomes painful due to movement across the pseudo-joint between the ossicle and the navicular bone.
Radiographic features
Ultrasound
It can be inferred on musculoskeletal ultrasoun...
Article
Achard Thiers syndrome
Achard-Thiers syndrome is a rare condition in elderly postmenopausal females, which is illustrated by androgen excess and insulin resistance secondary to type 2 diabetes mellitus.
Clinical presentation
hirsutism in older females
high serum glucose levels
proteinuria
glucosuria
polyuria
hy...
Article
Achenbach syndrome
Achenbach syndrome, also known as paroxysmal finger hematomas or acute idiopathic blue finger, is a rare disorder characterized by spontaneous rupture of digital arteries with resultant hematomas 1-3.
Epidemiology
Achenbach syndrome is more common in women, typically in middle to older age (30...
Article
Achondrogenesis
Achondrogenesis refers to a group of rare and extreme skeletal dysplasias.
Epidemiology
The estimated incidence is 1:40,000, with no recognized gender predilection.
Pathology
It is classified as an osteochondrodysplasia, meaning deficiency of both bone and cartilage development. The conditio...
Article
Acrocephalosyndactyly
Acrocephalosyndactyly syndromes (ACS) are a rare group of disorders collectively characterized by:
calvarial anomalies, e.g. craniosynostoses
digital anomalies, e.g. syndactyly
Pathology
While there can be some overlap in features, they can be primarily classified into the following major su...
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
Acrodysotosis
Acrodysotosis, also known as Arkless-Graham syndrome, Maroteaux-Malamut syndrome or acrodysplasia, is a rare genetic disorder affecting bone growth.
Epidemiology
The true incidence is not known. There is no known gender predilection. The condition is often detected in early childhood.
Clinica...
Article
Acute aortic syndrome
Acute aortic syndrome describes the presentation of patients with one of a number of life-threatening aortic pathologies that give rise to similar clinical presentations.
Exactly which entities are included under the umbrella term acute aortic syndrome varies somewhat from publication to public...
Article
Acute compartment syndrome
Acute compartment syndrome is a limb and life-threatening surgical emergency. It is a painful condition caused by increased intracompartmental pressure, compromising perfusion and resulting in muscle and nerve damage within that compartment.
Epidemiology
Acute compartment syndrome is more comm...
Article
Acute coronary syndrome
Acute coronary syndrome (ACS) is a group of cardiac diagnoses along a spectrum of severity due to the interruption of coronary blood flow to the myocardium, which in decreasing severity are:
ST elevation myocardial infarction (STEMI)
non-ST elevation myocardial infarction (NSTEMI)
unstable an...
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