Articles

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93 results found
Article

Lemierre syndrome

Lemierre syndrome (also known as postanginal septicemia) refers to thrombophlebitis of the internal jugular vein(s) with distant metastatic anaerobic septicemia in the setting of initial bacterial oropharyngeal infection such as pharyngitis/tonsillitis into lateral pharyngeal spaces of the neck ...
Article

Cogan syndrome

Cogan syndrome is a rare vasculitis of young adults that is primarily characterized by 1,4,6: inflammatory eye disease (classically interstitial keratitis) 6 audiovestibular dysfunction (similar to Meniere disease) 6 Epidemiology Cogan syndrome is rare and can occur in people of any age and ...
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Superior semicircular canal dehiscence syndrome

Superior semicircular canal dehiscence syndrome (SCDS) is an inner ear abnormality, where a clinical disequilibrium phenomenon is associated with the absence of the bony covering of the superior semicircular canal (SSCC). Notably, this CT finding has also been described in ~10% of individuals w...
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Rosai-Dorfman disease

Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy or Rosai-Dorfman-Destombes disease, is a rare benign idiopathic proliferative disease that involves phagocytic histiocytes. Epidemiology The disease predominantly occurs in young adults with a mean age at pre...
Article

Sotos syndrome

Sotos syndrome is an autosomal dominant syndrome considered as a form of cerebral gigantism, mainly characterized by prenatal and postnatal overgrowth. Epidemiology There is no ethnic group predominance and has been detected throughout the world. The prevalence is not known but is estimated to...
Article

Gradenigo syndrome

Gradenigo syndrome consists of the triad of: suppurative otitis media with persistent otorrhea and ear pain abducens nerve palsy, secondary to involvement of the nerve as it passes through Dorello canal retro-orbital pain, or pain in the cutaneous distribution of the frontal and maxillary div...
Article

Leontiasis ossea

Leontiasis ossea is largely a historical term used to describe a number of conditions that result in the affected patient's face resembling that of a lion. Although it is most frequently associated with craniofacial fibrous dysplasia, it has a broader meaning encompassing other lesions that have...
Article

Vernet syndrome

Vernet syndrome, also known as jugular foramen syndrome, is a constellation of cranial nerve palsies due to compression from a jugular foramen lesion, such as a jugular paraganglioma, schwannoma, or metastasis 2. Clinical presentation It consists of motor paralysis of: glossopharyngeal nerve ...
Article

Catel-Manzke syndrome

Catel-Manzke syndrome is a digitopalatal syndrome initially described in 1961. Inheritance pattern is unknown. Radiographic findings include micronagthia and accessory ossicles at the bases of the metacarpals.
Article

Williams syndrome

Williams syndrome (WS), sometimes called Williams-Beuren syndrome, is characterized by some or all of the following features: craniofacial dysmorphism (e.g. elfin facies) oral abnormalities short stature (50% of cases) mild to moderate intellectual disability  supravalvular aortic stenosis ...
Article

Collet-Sicard syndrome

Collet-Sicard syndrome, also known as condylar jugular syndrome, is a constellation of cranial nerve palsies due to neoplastic or non-neoplastic lesions at the jugular foramen 1,2. Clinical presentation Vernet syndrome, consisting of motor paralysis of glossopharyngeal nerve (CN IX) vagus ne...
Article

Sclerosteosis

Sclerosteosis is a rare autosomal recessive bone dysplasia resulting in sclerosis and hyperostosis, particularly of the skull, mandible and tubular bones. It is closely related to Van Buchem disease 1. Epidemiology Sclerosteosis is a very rare disease, with only around 100 cases reported. Ther...
Article

Posterior semicircular canal dehiscence syndrome

Posterior semicircular canal dehiscence syndrome (PSCD) is the presence of vestibuloauditory symptoms secondary to absence of the bony covering of the posterior semicircular canal (PSC). Epidemiology It is thought to be rare: in a case series of 112 patients with a high riding jugular bulb it ...
Article

Non-steroidal anti-inflammatory drug exacerbated respiratory disease

Non-steroidal anti-inflammatory drug (NSAID) exacerbated respiratory disease refers to the clinical constellation of 1,2: hypersensitivity to aspirin (and other NSAIDs) nasal polyposis / rhinosinusitis asthma Terminology Non-steroidal anti-inflammatory drug (NSAID) exacerbated respiratory d...
Article

Sjögren syndrome

Sjögren syndrome, or Sjögren disease, is an autoimmune condition of the exocrine glands that produce tears and saliva. Epidemiology Sjögren syndrome is the second most common autoimmune disorder after rheumatoid arthritis. There is a recognized female predilection with F:M ratio of ~9:1. Patie...
Article

Treacher Collins syndrome

Treacher Collins syndrome, also known as mandibulofacial dysostosis, is an autosomal dominant genetic abnormality and results from bilateral malformations of first and second branchial arches (see branchial apparatus). Epidemiology The incidence is estimated at approximately 1 in 50,000 live b...
Article

Sagliker syndrome

Sagliker syndrome is an uncommon bone condition, possibly a severe phenotype of renal osteodystrophy, marked by secondary hyperparathyroidism in patients suffering from chronic kidney disease associated with skull and facial deformities 1-4. Epidemiology Sagliker syndrome is a rare condition m...
Article

Tapia syndrome

Tapia syndrome , also called matador's disease, is a rare syndrome that is characterized by unilateral paralysis of the tongue and vocal cords. Although the problem typically occurs after anesthetic airway management or manipulation, it can be due to central causes in rare cases 11.  The syndrom...
Article

Godtfredsen syndrome

Godtfredsen syndrome, also known as clival (clivus) syndrome, is a rare syndrome of abducens and hypoglossal nerve palsies that localizes to a clival mass. Clinical presentation The classic clinical presentation includes 1-3: abducens nerve palsy: diplopia worse when horizontal gaze is direct...
Article

Morning glory syndrome (eye)

Morning glory disc anomaly (MGDA), also known as morning glory syndrome, is a rare congenital malformation of the optic nerve which is frequently associated with midline abnormalities of the brain and skull 1. Epidemiology Morning glory disc anomaly is rare and is more commonly found in female...

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