Articles

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More than 200 results
Article

Whipple triad

Whipple triad is the clinical presentation of pancreatic insulinoma and consists of: fasting hypoglycemia (<50 mg/dL or <2.7 mmol/L) symptoms of hypoglycemia immediate relief of symptoms after the administration of intravenous glucose History and etymology The triad and also the Whipple pro...
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Cavernous sinus syndrome

Cavernous sinus syndromes refer to constellations of clinical signs and symptoms referable to pathology within or adjacent to the cavernous sinus. Clinical presentation Patients present with multiple unilateral cranial neuropathies involving any combination of the following: ophthalmoplegia (...
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Tietze syndrome

Tietze syndrome is a benign condition characterized by a self-limiting inflammation of the costal cartilages often with hypertrophy. Although often described as such, it is not a costochondritis 9. Epidemiology The exact incidence of occurrence is not known. It is seen most commonly in the 2nd...
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Neurofibromatosis type 1 (thoracic manifestations)

Thoracic manifestations of neurofibromatosis type 1 (NF1), or von Recklinghausen disease, are related to pulmonary and mediastinal features of this multisystem neurocutaneous disorder, which is the most common phakomatosis. For thoracic manifestations involving the skeleton, such as focal thora...
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Trisomy 8 mosaic

Trisomy 8 mosaicism or Warkany syndrome is a less severe variant of trisomy 8 and individuals with a low proportion of affected cells may exhibit a comparatively mild range of physical abnormalities and developmental delay. They are more likely to survive into childhood and adulthood but can exh...
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Perlman syndrome

Perlman syndrome is a rare autosomal recessive overgrowth syndrome with earlier neonatal mortality. Maximum survival documented in the literature is up to nine years 4. Clinical presentation Perlman syndrome is demonstrated by a combination of many clinical features which includes polyhydramni...
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Patau syndrome

Patau syndrome (also known as trisomy 13) is considered the 3rd commonest autosomal trisomy. Patau syndrome, Down syndrome (trisomy 21), and Edwards syndrome (trisomy 18) are the only three trisomies compatible with extrauterine life. However, few infants with either Patau or Edwards syndrome l...
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Subclavian steal syndrome

Subclavian steal syndrome and subclavian steal phenomenon both result from severe proximal subclavian artery stenosis or occlusion resulting in retrograde flow in the ipsilateral vertebral artery. Terminology Subclavian steal phenomenon refers to steno-occlusive disease of the proximal subclav...
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Caudal regression syndrome

Caudal regression syndrome represents a spectrum of structural defects of the caudal region. Malformations vary from isolated partial agenesis of the coccyx to lumbosacral agenesis. Epidemiology Caudal regression syndrome is rare, with an estimated incidence of 1:7500-100,000 7,10. The vast m...
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Seatbelt syndrome

The seatbelt syndrome is the constellation of traumatic thoracic, abdominal and/or vertebral column injuries associated with three-point seatbelts 1,2: bowel perforation mesenteric tear sternal fracture lumbar spine fracture female breast trauma
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Stevens-Johnson syndrome

Stevens-Johnson syndrome (SJS) is an acute inflammatory skin condition, which is one of the drug-induced severe cutaneous adverse reactions (SCARs).  Terminology Stevens Johnson syndrome is on a spectrum of disease with toxic epidermal necrolysis syndrome (TENS) at the more severe end. Termino...
Article

Sjögren syndrome

Sjögren syndrome, also known as Sjögren disease, is an autoimmune connective tissue disease 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 wi...
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Bruns syndrome

Bruns syndrome occurs in patients with an obstructing intraventricular mass and consists of abrupt paroxysms of: severe headache vertigo vomiting The symptoms are characteristically exacerbated with sudden movements of the head. Pathology There are two main theories as to the pathogenesis ...
Article

Acute spinal cord ischemia syndrome

Acute spinal cord ischemia syndrome, also known as acute spinal cord infarction, is uncommon, but usually presents with profound neurological signs and symptoms, and the prognosis is poor.  Epidemiology Acute spinal cord ischemia syndrome represents only 5-8% of acute myelopathies 4,5 and <1% ...
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Drug rash with eosinophilia and systemic symptoms syndrome

The drug rash with eosinophilia and systemic symptoms (DRESS) syndrome typically manifests as a skin rash, fever, lymph nodal enlargement with variable internal organ involvement, and represents a hypersensitivity reaction to medication. Clinical presentation  Clinical presentation can be vari...
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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

Swyer-James syndrome

Swyer-James syndrome, also known as Swyer-James-MacLeod syndrome and Bret syndrome, is a rare lung condition that manifests as unilateral hemithorax lucency as a result of postinfectious obliterative bronchiolitis.  Epidemiology The condition typically follows a viral respiratory infection suc...
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Poland-Möbius syndrome

Poland-Möbius syndrome, is the combination of Möbius syndrome and Poland syndrome, which although very rare, has been well described 1.  History and etymology Sir Alfred Poland (1822-1872): English surgeon 2 Paul Julius Möbius (1853-1907): German neurologist 3
Article

Thanatophoric dysplasia

Thanatophoric dysplasia is a lethal skeletal dysplasia. It is the most common lethal skeletal dysplasia followed by osteogenesis imperfecta type II.  Epidemiology The estimated incidence is around 1:25,000-50,000 3. Associations polyhydramnios 4 Pathology Subtypes There are two recognized...
Article

Twin-to-twin transfusion syndrome

Twin-to-twin transfusion syndrome (TTTS), less commonly known as stuck twin syndrome, is a potential complication that can occur in a monochorionic twin pregnancy (either MCDA or MCMA).  Epidemiology This complication can occur in ~10% (range 15-25%) of monochorionic pregnancies, giving an est...

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