Articles

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193 results found
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...
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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...
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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...
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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...
Article

SADDAN syndrome

SADDAN syndrome is an acronym for severe achondroplasia with developmental delay and acanthosis nigricans. It is an extremely rare condition, and as the name states, comprises a combination of skeletal anomalies includes craniosynostosis 2, brain and cutaneous anomalies. Pathology Genetics Th...
Article

Mazabraud syndrome

Mazabraud syndrome is a rare syndrome characterized by skeletal fibrous dysplasia and intramuscular myxomas 1-3. Epidemiology Only 107 cases have been reported in the global literature (as of 2019) 1,3-5,15. The prevalence is ~ 1 in 1,000,000 3 with a strong female predilection (68-84%) 1,3. T...
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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...
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Polydactyly

Polydactyly (less commonly called hyperdactyly) refers to the situation where there are more than the usual number of digits (five) in a hand or foot. It can be broadly classified as: preaxial polydactyly: extra digit(s) towards the thumb/hallux (radially) postaxial polydactyly: extra digit(s)...
Article

Conus medullaris syndrome

Conus medullaris syndrome is caused by an injury or insult to the conus medullaris and lumbar nerve roots. It is a clinical subset of spinal cord injury syndromes. Injuries at the level of T12 to L2 vertebrae are most likely to result in conus medullaris syndrome. Clinical presentation Patient...
Article

Trichorhinophalangeal syndrome type II

Trichorhinophalangeal syndrome type II, also known as Langer-Giedion syndrome, is an extremely rare autosomal dominant genetic disorder. Pathology The effects are seen mainly on the skeletal system and primarily involves hair: "tricho-" nose: "rhino-" digits of the hands and feet: "-phalang...
Article

Milwaukee shoulder

Milwaukee shoulder refers to a destructive shoulder arthropathy due to the deposition of hydroxyapatite crystals, and identification of these crystals in synovial fluid is the cornerstone of diagnosis. Epidemiology Milwaukee shoulder frequently affects older women, often with a history of trau...
Article

Morquio syndrome

Morquio syndrome (in older literature it is sometimes called Morquio-Brailsford syndrome) is an autosomal recessive mucopolysaccharidosis (MPS) type IV. Epidemiology Incidence estimated at ~1:40,000. Clinical presentation Many cases present at ~2 years of age and have normal intelligence. Cl...
Article

Jarcho-Levin syndrome

Jarcho-Levin syndrome, or spondylothoracic dysostosis, is a rare genetic disorder. Terminology Previously, spondylocostal dysostosis was considered part of the Jarcho-Levin syndrome spectrum. Epidemiology The exact prevalence of this disease is unknown. Clinical presentation It is primaril...
Article

Snapping hip syndrome

Snapping hip syndrome (also known as coxa saltans or dancer’s hip) refers to a situation where there is an audible snapping sound produced during motion of the hip.  Epidemiology Some reports suggest that up to 10% of population may have this to some degree 8. Pathology This condition is cla...
Article

Marfan syndrome

Marfan syndrome is a multisystem connective tissue disease caused by a defect in the protein fibrillin 1, encoded by the FBN1 gene. Cardiovascular involvement with aortic root dilatation and dissection is the most feared complication of the disease. Epidemiology The estimated prevalence is aro...
Article

Hereditary multiple exostoses

Hereditary multiple exostoses/osteochondromas, also known as diaphyseal aclasis, osteochondromatosis, or simply multiple osteochondromas, is an autosomal dominant condition, characterized by the development of multiple osteochondromas. Epidemiology Hereditary multiple exostoses demonstrate an ...
Article

Carpal tunnel syndrome

Carpal tunnel syndrome results from compression of the median nerve (tunnel syndrome) within the carpal tunnel. It is a cause of significant disability and is one of three common median nerve entrapment syndromes, the other two being anterior interosseous nerve syndrome and pronator teres syndro...
Article

CREST syndrome

CREST syndrome (also known as limited systemic sclerosis or limited scleroderma) is a variant of progressive systemic sclerosis (PSS) and stands for C - calcinosis R - Raynaud phenomenon E - oesophageal dysmotility S - sclerodactyly T - telangiectasia See also systemic sclerosis
Article

Anti-synthetase syndrome

Anti-synthetase syndrome is a systemic, inflammatory, autoimmune disease that is characterized by inflammatory myositis, polyarthritis associated with interstitial lung disease, and anti-synthetase autoantibodies. Pathology Anti-synthetase syndrome can result from autoantibodies to eight of th...
Article

McCune-Albright syndrome

McCune-Albright syndrome (MAS) (also known as McCune-Albright-Sternberg syndrome) is a genetic disorder characterized by the triad: endocrinopathy: precocious puberty polyostotic fibrous dysplasia: more severe than in sporadic cases cutaneous pigmentation: coast of Maine 'café au lait' spots ...

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