Items tagged “syndrome”

259 results found
Case

Dyke-Davidoff-Masson syndrome

  Diagnosis almost certain
Hani Makky Al Salam
Published 11 Mar 2010
59% complete
MRI
Article

Young syndrome

Young syndrome shares similar clinical and radiological findings to primary ciliary dyskinesia and cystic fibrosis, however, the underlying pathogenesis is yet to be fully elucidated. Obstructive azoospermia at the level of the epididymis is thought to be the cause of infertility. The commonly r...
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 ...
Case

Kartagener syndrome

  Diagnosis certain
Hani Makky Al Salam
Published 18 Mar 2010
87% complete
CT X-ray
Article

Lutembacher syndrome

Lutembacher syndrome refers to the rare combination of congenital atrial septal defect with acquired mitral stenosis. History and etymology It is named after Rene Lutembacher 4.
Case

Syndrome of multiple inherited schwannomas, meningiomas and ependymomas (MISME)

  Diagnosis almost certain
Paresh K Desai
Published 24 Mar 2010
62% complete
MRI
Article

Lady Windermere syndrome

Lady Windermere syndrome refers to a pattern of pulmonary Mycobacterium avium complex (MAC) infection seen typically in elderly white women who chronically suppress the normal cough reflex. A fastidious nature and a reticence to expectorate are believed to predispose such persons to infections w...
Case

Sturge-Weber syndrome

  Diagnosis probable
Hani Makky Al Salam
Published 17 Apr 2010
68% complete
MRI
Article

Zellweger syndrome

Zellweger syndrome (ZS), also known as the cerebrohepatorenal syndrome, is a multisystem metabolic abnormality. As the name implies it primarily affects the central nervous system, liver and kidneys.  Epidemiology The condition typically presents in neonates with poor feeding and/or seizures. ...
Article

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...
Case

Apert syndrome or type I acrocephalosyndactyly

  Diagnosis certain
Hani Makky Al Salam
Published 16 May 2010
67% complete
X-ray CT
Article

Metachondromatosis

Metachondromatosis refers to the rare combination of: multiple enchondromatosis (Ollier disease) and  osteochondromatosis (diaphyseal aclasis) In contrast to enchondromatosis alone, metachondromatosis carries an autosomal dominant inheritance. In contrast to osteochondromatosis, the lesions ...
Article

Apert syndrome

Apert syndrome (also known as type I acrocephalosyndactyly) is a syndrome that is predominantly characterized by skull and limb malformations. Epidemiology The estimated incidence is 1 case per 65-80,000 pregnancies. Risk factors increased paternal age has been proposed 6 Associations CNS ...
Case

Apert syndrome

  Diagnosis possible
Hani Makky Al Salam
Published 02 Aug 2010
41% complete
X-ray
Case

Apert syndrome with syndactyly

  Diagnosis certain
Andrew Dixon
Published 02 Aug 2010
87% complete
X-ray CT
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...
Case

PHACE syndrome

  Diagnosis almost certain
Andrew Dixon
Published 13 Aug 2010
68% complete
MRI
Article

Hurler syndrome

Hurler syndrome is one of the mucopolysaccharidoses (MPS type I). Epidemiology The estimated incidence is ~1:100,000. Clinical presentation It manifests in the first years of life with intellectual disability, corneal clouding, deafness, and cardiac disease. Death usually occurs within the f...
Case

Holt Oram syndrome

  Diagnosis certain
Andrew Dixon
Published 30 Aug 2010
88% complete
X-ray
Article

Moyamoya syndrome

Moyamoya syndrome, also termed the moyamoya pattern or phenomenon, is due to numerous conditions that can cause arterial occlusion of the circle of Willis, with resultant collaterals, and appearances reminiscent of moyamoya disease. These conditions include 1-4 : vessel wall abnormalities int...