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.
More than 200 results
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
Tarsal tunnel syndrome
Tarsal tunnel syndrome refers to an entrapment neuropathy (tunnel syndrome) of the (posterior) tibial nerve or of its branches within the tarsal tunnel. This condition is analogous to carpal tunnel syndrome.
Clinical presentation
The most common symptoms are pain and paresthesia in the toes, s...
Article
Camptodactyly arthropathy coxa vara pericarditis syndrome
Camptodactyly arthropathy coxa vara pericarditis (CACP) syndrome is a rare condition principally characterized by
congenital or early-onset camptodactyly and childhood-onset non-inflammatory arthropathy
coxa vara deformity or other dysplasia associated with progressive hip disease
pericardit...
Article
Kabuki syndrome
Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare polydysplasia that is thought to be more common in Japan.
Epidemiology
The estimated incidence is 1:32.000 in Japan. It is sporadically seen elsewhere in the world. The reason for the disparity in incidence is controversial.
Clinical present...
Article
Autoinflammatory diseases with periodic fevers
There are several autoinflammatory diseases with periodic fevers. These include
familial mediterranean fever (FMF)
cryopyrin-associated periodic syndrome (CAPS)
tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS)
hyperimmunoglobulinemia D and periodic fever syndrome / m...
Article
Syndrome of the trigone
Syndrome of the trigone occurs when intracranial tumors that arise in the trigone of the lateral ventricle present with a distinctive constellation of signs and symptoms due to compression of the posterior limb of the internal capsule and the adjacent white matter of the parietal and posterior f...
Article
Paradoxical brain herniation
Paradoxical brain herniation, also known as sinking skin flap syndrome or syndrome of the trephined, is a rare and potentially fatal complication of decompressive craniectomy.
Clinical presentation
The clinical presentation of paradoxical brain herniation may range from asymptomatic or mono s...
Article
Stewart-Treves syndrome
Stewart-Treves syndrome refers to an angiosarcoma seen in the setting of lymphedema 1.
It was classically attributed to lymphedemas induced by radical mastectomy to treat breast cancer. Nowadays, we know that it can arise in chronically lymphedematous regions of any cause 2.
The incidence is ...
Article
Heiner syndrome
The Heiner syndrome is a rare form of primary pulmonary hemosiderosis associated with an allergy to cow's milk. The syndrome includes:
rectal blood loss with hypochromic microcytic anemia
pulmonary infiltrates (often recurrent)
hypoproteinemia
See also
pulmonary hemosiderosis
Article
Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome (HPS) is a rare syndrome which consists of:
oculocutaneous hypopigmentation (albinism)
platelet dysfunction
abnormal storage of autofluorescent pigment (ceroid or lipofuscin)
typically occurs within lysosomal organelles of the cells of multiple organs and the reti...
Article
Superior orbital fissure syndrome
Superior orbital fissure syndrome (SOFS) (also known as Rochon–Duvigneaud syndrome) is a rare complication of craniofacial trauma with an orbital fracture that extends to the superior orbital fissure that results in injury to the cranial nerves III, IV, V (ophthalmic branch of the trigeminal ner...
Article
Vaughan-Jackson syndrome
Vaughan-Jackson syndrome describes a rare syndrome of sequential atraumatic extensor tendon ruptures in the hand, usually in the setting of rheumatoid arthritis of the distal radioulnar joint.
Clinical presentation
The presentation is with reduced extension of the fingers 1-5. Typically, the f...
Article
Auriculocondylar syndrome
Auriculocondylar syndrome is a rare congenital syndrome primarily characterized by malformed ears and mandibular condyle aplasia/hypoplasia.
Pathology
This is an autosomal dominant genetic disease resulting from GNAI3 or PLCB4 gene defects. This affects facial development especially the 1st an...
Article
Diamond-Blackfan anemia
Diamond-Blackfan anemia (DBA) (previously known as congenital hypoplastic anemia) is the primary congenital form of pure red cell aplasia. It is a rare sporadic genetic form of anemia that typically presents in the first few years of life, and usually only affects cells of the erythroid lineage ...
Article
Pediatric opioid use‐associated neurotoxicity with cerebellar edema (POUNCE) syndrome
Pediatric opioid use‐associated neurotoxicity with cerebellar edema (POUNCE) syndrome is a toxic encephalopathy in children with opioid overdose that features prominent cerebellar edema. Cerebellar predominance, along with variable supratentorial involvement, appears to be a distinct pattern of ...
Article
Dumping syndrome
Dumping syndrome is a common complication following gastric, bariatric or esophageal surgeries.
There are two types of dumping syndrome:
early dumping syndrome
postprandial hyperinsulinemic hypoglycemia (late dumping syndrome)
Epidemiology
Dumping syndrome occurs in approximately 12-40% of ...
Article
Blue rubber bleb nevus syndrome
Blue rubber bleb nevus syndrome (BRBNS) or Bean syndrome, is a rare sporadic syndrome characterized by multifocal venous anomalies. Patients often have multiple soft blue skin lesions (blueberry muffin syndrome) associated with multiple bowel venous malformations, which could lead to lower gastr...
Article
Facial colliculus syndrome
Facial colliculus syndrome refers to a constellation of neurological signs due to a lesion at the facial colliculus, involving:
abducens nerve (CN VI) nucleus
facial nerve (CN VII) fibers at the genu
medial longitudinal fasciculus
Clinical presentation
lower motor neuron facial nerve palsy ...
Article
Fuhrmann syndrome
Fuhrmann syndrome is a rare non-lethal genetic limb malformation syndrome characterized by 1,2:
hypoplasia of pelvis
bowing of femur bone
polydactyly
hypoplastic fibula
symmetrical fingernail deficiency 4
tooth anomalies 5
malformed thumbs 8
It is a syndrome in which there is a partial l...
Article
Blueberry muffin syndrome
Blueberry muffin syndrome (a.k.a. blueberry muffin baby or rash) refers to a skin appearance seen in pediatric patients with multiple raised cutaneous, classically blue/purple lesions which is due to extramedullary hematopoiesis in the dermis.
The syndrome was originally described in congenital...
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