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 edited by countless contributing members over a period of time. A global group of dedicated editors oversee accuracy, consulting with expert advisers, and constantly reviewing additions.

402 results found
Article

Van der Woude syndrome

van der Woude syndrome (VWS) is characterized by the association of congenital lower lip fistulae / pits with cleft lip and / or  palate. It is the one of the most common clefting syndromes in humans 1.  VWS individuals have a high prevalence of hypodontia. Pathology Genetics It carries anau...
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Vascular syndromes

The are numerous vascular syndromes that can occur in the body. There include Syndromes principally involving the vascular system Budd-Chiari syndrome coeliac artery compression syndrome hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) hypothenar hammer syndrome Kasabach...
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VATER

VATER (equivalent to VACTERL) is the non-random constellation of a number of congenital anomalies. V : vertebral anomalies A : anal atresia TE : tracheo-oesophageal fistulas R : radial ray hypoplasia, polydactyly and renal agenesis Epidemiology The prevalence of at least 3/5 anomalies oc...
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Vernet syndrome

Vernet syndrome (also known as the jugular foramen syndrome) is a constellation of cranial nerve palsies due to compression from a jugular foramen lesion such as a glomus jugulare tumour or schwannoma. It consists of motor paralysis of: glossopharyngeal nerve (CN IX) vagus nerve (CN X) access...
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Vogt-Koyanagi-Harada syndrome

Vogt-Koyanagi-Harada syndrome is a multisystem disorder characterised by granulomatous panuveitis with exudative retinal detachments that is often associated with neurologic and cutaneous manifestations. Epidemiology Vogt-Koyanagi-Harada usually affected those of Asian, Middle Eastern, Asian I...
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Von Hippel-Lindau disease

Von Hippel-Lindau (vHL) disease is characterised by the development of numerous benign and malignant tumours in different organs (at least 40 types 1) due to mutations in the VHL tumour suppressor gene on chromosome 3. Epidemiology The disease is rare with an estimated prevalence of 1:35,000-5...
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Waardenburg syndrome

Waardenburg syndrome is a rare congenital pigmentary disorder secondary to an abnormal distribution of neural crest-derived melanocytes during embryogenesis resulting in patchy areas of depigmentation. It is considered in the investigation of congenital sensorineural deafness. Epidemiology Est...
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WAGR syndrome

The WAGR syndrome stands for: Wilms tumours (greatly increased risk) aniridia genital anomalies mental retardation Pathology Occurs from a mutation related to chromosome 11p13 3 which is in close proximity to WT1 gene. 
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Walker-Warburg syndrome

Walker-Warburg syndrome (WWS), sometimes known as HARDE syndrome, is an extremely rare lethal form of congenital muscular dystrophy. It is primarily characterised by: fetal hydrocephalus: almost always present neuronal migrational anomalies: agyria (cobblestone lissencephaly / lissencephaly ty...
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Waterhouse-Friderichsen syndrome

Waterhouse-Friderichsen syndrome is characterised by adrenal insufficiency that results from atraumatic adrenal haemorrhage in consequence of septicaemia.  Pathology Waterhouse-Friderichsen syndrome is due to septicaemia and common infective agents include 5: meningococcus: traditionally desc...
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Weaver syndrome

Weaver syndrome (WS) is a rare congenital disorder. Clinical spectrum increased birth weight: fetal macrosomia early overgrowth macrocephaly accelerated osseous maturation: increased bone age typical facial features broad forehead hypertelorism long philtrum micrognathia large ears h...
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Weber syndrome

Weber syndrome is a midbrain stroke syndrome that involves the fascicles of the oculomotor nerve resulting in an ipsilateral CN III palsy and contralateral hemiplegia or hemiparesis 1-3. Using imaging alone, it is difficult to distinguish Weber from Benedikt syndrome, unless clear involvement o...
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Werner syndrome

Werner syndrome is a progeroid rare autosomal recessive condition attributed to chromosome 8. It should not to be confused with similarly sounding Wermer syndrome. Pathology Werner syndrome is characterised by premature senescence cataracts short stature scleroderma-like skin changes such ...
Article

Wernicke-Korsakoff syndrome

Wernicke encephalopathy, also referred as Wernicke-Korsakoff syndrome, is due to thiamine (vitamin B1) deficiency, and is typically seen in alcoholics. On imaging, it is commonly seen on MRI as areas of symmetrical increased T2/FLAIR signal involving the mamillary bodies, dorsomedial thalami, t...
Article

Whipple triad

Whipple triad is the clinical presentation of pancreatic insulinomas and consists of: fasting hypoglycemia (<50 mg/dl) symptoms of hypoglycemia immediate relief of symptoms after the administration of IV glucose History and etymology As a good piece of trivia, one would suspect that Whipple...
Article

Wildervanck syndrome

Wildervanck syndrome, also known as cervico-ocular-acoustic dysplasia, consists of the triad of: Klippel-Feil syndrome congenital ossicular anomalies: usually diffuse ossicular ankylosis and sensorineural deafness. Duane's retraction syndrome: an ocular motility disturbance due to fibrosis of...
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Williams syndrome

Williams syndrome (WS) is characterised by some or all or the following features: craniofacial dysmorphism (e.g. elfin facies) oral abnormalities short stature (50% of cases) mild to moderate mental retardation supravalvular aortic stenosis 2 pulmonary artery stenosis 3 renal insufficienc...
Article

Wilson Mikity syndrome

Wilson Mikity syndrome (WMS) refers to chronic lung disease in premature infants, characterized by early development of cystic interstitial emphysema (PIE). This is now sometimes considered as part of the spectrum of bronchopulmonary dysplasia. See also chronic pulmonary insufficiency of prema...
Article

Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome (WHS) is an extremely rare chromosomal anomaly characterised by partial deletion of the p arm of chromosome 4 (4p16.3). Clinicopathological spectrum CNS agenesis of the corpus callosum hypertelorism coloboma craniofacial calvarial asymmetry cleft lip + / - palate...
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Wolman disease

Wolman disease is a rare autosomal recessive inborn error of metabolism resulting in the deposition of fats in multiple organs.  Clinical presentation Patients with Wolman disease typically present during the first two months of life with failure to thrive, diarrhoea and vomiting. Abdominal di...
Article

Wunderlich syndrome

Wunderlich syndrome is a rare condition, in which spontaneous nontraumatic renal haemorrhage occurs into the subcapsular and perirenal spaces 2. Clinical features Wunderlich syndrome is clinically characterized by Lenk's triad acute flank pain flank mass hypovolaemic shock Pathology Aetio...
Article

Wyburn-Mason syndrome

Wyburn-Mason syndrome (also known as Bonnet-Dechaume-Blanc syndrome) is a rare, nonhereditary neurocutaneous disorder that typically presents with unilateral vascular malformations that primarily involve the brain, orbits and facial structures. It is currently classified as a craniofacial arteri...
Article

X-linked Opitz G/BBB syndrome

X-linked Opitz G/BBB syndrome (XLOS) is an x-linked disorder with a spectrum of congenital anomalies. Anomalies that may be seen are: facial anomalies  ocular hypertelorism prominent forehead widow's peak broad nasal bridge anteverted nares cleft lip and/or palate  laryngotracheoesophage...
Article

Young syndrome

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

Yunis-Varón syndrome

Yunis Varón syndrome is a rare skeletal dysplasia. It is thought to be autosomal recessive. Radiographic features severe neurologic impairment cleidocranial dysplasia absent clavicles macrocrania diastasis of sutures micrognathia absent thumbs and distal phalanges of fingers hypoplasia ...
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 (CNS), liver and kidneys.  Epidemiology The condition typically presents in neonates with poor feeding and/or seiz...
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Zimmerman-Laband syndrome

Zimmerman-Laband syndrome is a rare congenital syndrome, characterized primarily by gingival hypertrophy and skeletal abnormalities.  Pathology The molecular basis of the syndrome is currently unknown. An autosomal dominant mutation with high mutation rate and rare instances of germinal mosaic...
Article

Zinner syndrome

Zinner syndrome is a triad of Wolffian duct anomalies that include unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction 1. Clinical presentation Patients are typically diagnosed at 3rd or 4th decade of life and often present with perineal pain, recurren...
Article

Zollinger-Ellison syndrome

Zollinger-Ellison syndrome (ZES) is a clinical syndrome that occurs secondary to a gastrinoma.  Clinical presentation Diagnosis of ZES is often delayed by 5-7 years after the onset of symptoms 2.  Pathology Gastrinomas are usually multiple and typically located in the duodenum (more common) ...
Article

Zuelzer-Wilson syndrome

The Zuelzer-Wilson syndrome (total colonic aganglionosis) is a subset of Hirschsprung disease, in which the whole colon is aganglionic. It is uncommon and accounts for 2-13% of cases of Hirschsprung disease 3. Multiple procedures have been devised to treat the condition, including proctocolectom...

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