Articles

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194 results found
Article

Little league shoulder

Little league shoulder is thought to occur due to overuse damage of the proximal humeral epiphysis/metaphysis, seen typically in young baseball players, especially pitchers. Epidemiology Although it is most commonly seen in baseball players particularly in pitchers, it also presents in adolesc...
Article

Caffey disease

Caffey disease or infantile cortical hyperostosis is a largely self-limiting disorder which affects infants. It causes bone changes, soft-tissue swelling, and irritability. It is distinct from physiological periostitis which can be seen involving the diaphyses of the tibiae, humeri, and femora ...
Article

Fat pad impingement syndromes of the knee

In fat pad impingement syndromes, the etiologies are different for each knee fat pad. In anterior suprapatellar fat pad impingement syndrome, the cause is usually due to either a developmental cause related to the anatomy of the extensor mechanism or may be related to abnormal mechanics. In thi...
Article

Shwachman-Diamond syndrome

Shwachman-Diamond syndrome, also known as Shwachman-Bodian-Diamond syndrome, is a rare autosomal recessive disorder characterized by 1: exocrine pancreatic insufficiency metaphyseal chondrodysplasia bone marrow hypoplasia (cyclic neutropenia) Epidemiology Shwachman-Diamond syndrome is a rar...
Article

Ischiofemoral impingement

Ischiofemoral impingement refers to the impingement of soft tissues between the ischial tuberosity and lesser trochanter of the femur.  Clinical presentation Patients with ischiofemoral impingement present with chronic pain in the groin and/or buttock, without a history of traumatic injury. Pa...
Article

SAPHO syndrome

The SAPHO syndrome is an acronym that refers to a rare syndrome that is manifested by a combined occurrence of 2: S: synovitis A: acne P: pustulosis H: hyperostosis O: osteitis Epidemiology SAPHO classically tends to present in young to middle-aged adults. Presentation in the pediatric po...
Article

Roberts syndrome

Roberts syndrome, also known as Roberts-SC phocomelia syndrome, pseudothalidomide syndrome, or Appelt-Gerken-Lenz syndrome, is a rare congenital malformation syndrome. Clinical presentation general intrauterine growth restriction postnatal growth and developmental delay failure to thrive t...
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

Donohue syndrome

Donohue syndrome, also known as leprechaunism, is a rare autosomal recessive form of insulin resistance syndrome with a distinctive phenotype including elfin facies and severe disturbances of glucose homeostasis. It is universally fatal in early childhood. Epidemiology Donohue syndrome is very...
Article

Sanjad-Sakati syndrome

Sanjad-Sakati syndrome, also known as hypoparathyroidism-intellectual disability-dysmorphism syndrome, is a rare autosomal recessive disorder. Epidemiology The syndrome is almost exclusively found in people of Arab origin. There is an equal distribution in both sexes. Clinical presentation h...
Article

Reactive arthritis

Reactive arthritis (ReA) is a sterile inflammatory monoarticular or oligoarticular arthritis that follows an infection at a different site, commonly enteric or urogenital. It is classified as a type of seronegative spondyloarthropathy. Terminology Reactive arthritis was formerly known as Reite...
Article

Bertolotti syndrome

Bertolotti syndrome refers to the association between lumbosacral transitional vertebrae and low back pain. Although it may be a consideration in younger patients, the entity is considered controversial and has been both supported and disputed. Some studies suggest lumbosacral transitional vert...
Article

Maffucci syndrome

Maffucci syndrome is a congenital nonhereditary, sporadic, mesodermal dysplasia characterized by multiple enchondromas with soft-tissue venous malformations and/or spindle-cell hemangiomas 6,7, generally caused by somatic mutations in IDH1 or IDH2 6. On imaging, it is usually portrayed by a sho...
Article

Turner syndrome

Turner syndrome, also known as 45XO or 45X, is the most common of the sex chromosome abnormalities in females.  Epidemiology The incidence is estimated at 1:2000-5000 of live births, although the in utero rate is much higher (1-2% of conceptions) due to a significant proportion of affected fet...
Article

Camptocormia

Camptocormia, also known as bent spine syndrome or cyphose hystérique, is a rare syndrome characterized by involuntary flexion of the thoracolumbar spine with weight-bearing which reduces when lying down, and is due to isolated atrophy of the paraspinal muscles. Epidemiology In a small case se...
Article

Holt-Oram syndrome

Holt-Oram syndrome (HOS), also known as heart-hand syndrome, is an autosomal dominant syndrome that results in congenital heart defects and upper limb anomalies:  congenital heart defects  atrial septal defect (ASD) (commonest cardiac defect 4) ventricular septal defect (VSD) aortic coarctat...
Article

Thoracic outlet syndrome

Thoracic outlet syndrome refers to a group of clinical syndromes caused by congenital or acquired compression of the brachial plexus or subclavian vessels as they pass through the superior thoracic aperture 11.  Clinical presentation Clinical presentation will depend on the structure compresse...
Article

Buschke-Ollendorff syndrome

Buschke-Ollendorff syndrome (BOS), also known as disseminated dermatofibrosis lenticularis 2, comprises osteopoikilosis associated with disseminated connective tissue and cutaneous yellowish nevi, predominantly on the extremities and trunk 1. Genetic work has linked this syndrome to both isolate...
Article

Anterior suprapatellar fat pad impingement syndrome

Anterior suprapatellar (quadriceps) fat pad impingement syndrome is a controversial cause of anterior knee pain although anterior suprapatellar fat pad edema may often, and possibly more commonly, be incidental or considered an anatomical variant 1,2,11.  Clinical presentation Patients present...
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...

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