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.

444 results found
Article

Sotos syndrome

Sotos syndrome it is an autosomal dominant syndrome considered as a form of cerebral gigantism, most characterised by the 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 estimat...
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Spigelian-cryptorchidism syndrome

Spigelian-cryptorchidism syndrome is the association of Spigelian hernias and cryptorchidism in children.  Pathology It is reported that ~50% (range 28-75%) range of paediatric patients with Spigelian hernias will have ipsilateral cryptorchidism 1,2.  Along with Spigelian hernia and cryptorch...
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Spinal cord injury

Spinal cord injury (SCI) can be traumatic or non-traumatic (i.e. neoplastic/stenosis) but the syndromes associated with spinal cord injury can be seen in all aetiologies. Injury to the spinal cord can be incomplete or complete and depends upon the mechanism of injury. This is important as diffe...
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Spondylocostal dysostosis

Spondylocostal dysostosis (SCDO) is a rare condition characterised by short-trunk dwarfism secondary to developmental anomalies of the vertebrae and ribs. Previously the condition Jarcho-Levin syndrome (also known as spondylothoracic dysostosis) was grouped together with spondylocostal dysostosi...
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Spondyloepiphyseal dysplasia

Spondyloepiphyseal dysplasia is a type of skeletal dysplasia that mainly involves the spine and proximal epiphyseal centres.  Clinical presentation short neck short trunk with protruding abdomen  normal IQ spine atlanto-axial instability craniovertebral junction stenosis platyspondyly l...
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Stauffer syndrome

Stauffer syndrome is paraneoplastic nephrogenic hepatomegaly. It most commonly occurs in the setting of renal cell carcinoma, and is the enlargement the liver without hepatic metastases. It is a cause of cholestasis and cholestatic jaundice.  History and etymology It is named after Maurice H. ...
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Stevens Johnson syndrome

Stevens Johnson syndrome (SJS) is an acute inflammatory skin condition.  Terminology SJS is on a spectrum of disease with toxic epidermal necrolysis (TEN) at the more severe end. Terminology depending on how much surface area is involved 1,2: SJS: <10% SJS-TEN overlap: 10-30% TEN: >30% Epi...
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Stewart-Treves syndrome

Stewart-Treves syndrome refers to an angiosarcoma seen in the setting of lymphoedema 1. It was classically attributed to lymphoedemas induced by radical mastectomy to treat breast cancer. Nowadays, we know that it can arise in any chronically lymphoedematous region due to any cause2.  The inci...
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Stickler syndrome

Stickler syndrome refers to a group of disorders primarily affecting connective tissue. Pathology Several gene mutations have been idntified dependent on specific sub types which include: Stickler syndrome type I: COL2A1 Stickler syndrome type II: COL9A1 Stickler syndrome type III: COL11A1 ...
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Stiff person syndrome

Stiff person syndrome, previously known as stiff man syndrome, was first described in 1956 by Moersch and Woltman of Mayo Clinic 1 and is a very rare neuromuscular disease characterised by: progressive muscle stiffness of the spine and lower extremities muscle spasms triggered by external stim...
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Straight back syndrome

Straight back syndrome refers to the loss of the normal thoracic kyphosis and associated decrease in anteroposterior diameter. Clinical presentation Most patients are asymptomatic. On precordial auscultation, individuals with this condition can have an ejection systolic murmur over the pulmona...
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Sturge-Weber syndrome

Sturge-Weber syndrome, or encephalotrigeminal angiomatosis, is a phakomatosis characterised by facial port wine stains and pial angiomas.  It is part of a wide spectrum of possible phenotypes included in the craniofacial arteriovenous metameric syndrome (CAMS). Epidemiology Sturge-Weber syndr...
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Subclavian steal syndrome

Subclavian steal syndrome (SSS) and subclavian steal phenomenon both result from occlusion or severe stenosis of the proximal subclavian artery resulting in retrograde flow in the ipsilateral vertebral artery. Terminology Subclavian steal phenomenon refers to steno-occlusive disease of the pro...
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Sulcal artery syndrome

Sulcal artery syndrome is a rare cause of spinal cord infarction involving the territory of one of the sulcal arteries, which are penetrating branches of the anterior spinal artery, each vessel supplying either left or right side of the cord, but not both. The result is an incomplete Brown-Séqua...
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Superior mesenteric artery syndrome

Superior mesenteric artery (SMA) syndrome, also known as Wilkie syndrome, is a rare acquired vascular compression disorder in which acute angulation of superior mesenteric artery (SMA) results in compression of the third part of the duodenum leading to obstruction. It should not be confused wit...
Article

Superior semicircular canal dehiscence syndrome

Superior semicircular canal dehiscence syndrome (SCDS) is a recently described inner ear abnormality, where a clinical disequilibrium phenomenon is associated with the absence of the bony covering of the superior semicircular canal (SSC). Notably, this CT finding has also been described in ~10%...
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Superior vena cava obstruction

Superior vena cava (SVC) obstruction can occur from extrinsic compression, intrinsic stenosis or thrombosis. Malignancies are the main cause and are considered an oncologic emergency. Superior vena cava syndrome (SVCS) refers to the clinical syndrome with symptoms that results from this obstruct...
Article

Susac syndrome

Susac syndrome (SS), also known as SICRET syndrome (small infarctions of cochlear, retinal and encephalic tissue), is a rare syndrome typically affecting young to middle-age women that is clinically characterised by the triad of acute or subacute encephalopathy, bilateral sensorineural hearing l...
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Sweet syndrome

Sweet syndrome (acute febrile neutrophilic dermatosis) is characterised by a constellation of clinical symptoms, physical features, and pathologic findings which include: fever neutrophilia tender erythematous skin lesions (papules, nodules, and plaques) a diffuse infiltrate consisting predo...
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Swyer-James syndrome

Swyer-James syndrome (SJS), 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 infecti...
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Syndrome of inappropriate antidiuretic hormone secretion

Syndrome of inappropriate antidiuretic hormone secretion (SIADH or SIAD) was described in patients with lung cancer who developed hyponatraemia associated with continued urinary sodium loss. The result is often dilutional hyponatremia in which the sodium remains normal but total body fluid incre...
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Syndrome of the trigone

Syndrome of the trigone occurs when intracranial tumours that arise in the trigone of the lateral ventricle present with a distinctive constellation of signs and symptoms due to compression of the posterior limb of the internal capsule and the adjacent white matter of the parietal and posterior ...
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Syndromes with a vascular component

Ataxia-telangiectasia CREST syndrome Lemierre syndrome Maffucci syndrome PHACE syndrome Stewart-Treves syndrome Sturge-Weber syndrome von Hippel-Lindau disease Wyburn-Mason syndrome
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Tarsal tunnel syndrome

Tarsal tunnel syndrome refers to an entrapment neuropathy of the tibial nerve or of its branches within the tarsal tunnel. This condition is analogous to carpal tunnel syndrome. Clinical presentation The most common symptoms are pain and paresthesia in the toes, sole, or heel and the main find...
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Taussig-Bing anomaly

Taussig-Bing anomaly is a rare congenital heart malformation and is one of the variants of double outlet right ventricle. It consists of transposition of the aorta to the right ventricle and malposition of the pulmonary artery with subpulmonary ventricular septal defect. History and etymology ...
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Terson syndrome

Terson syndrome refers to vitreous haemorrhage associated with subarachnoid haemorrhage, however some authors include retinal haemorrhage as well. The syndrome is a poor prognostic marker in patients with subarachnoid haemorrhage. Epidemiology Terson syndrome has been reported to occur in 13-5...
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Thanatophoric dysplasia

Thanatophoric dysplasia (TD) 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. Pathology Genetics It results from a mutation coding for the fibroblas...
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Thoracic outlet syndrome

Thoracic outlet syndrome (TOS) 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.  Clinical presentation Clinical presentation will depend on the structure compre...
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Thrombocytopenia with absent radius syndrome

Thrombocytopenia with absent radius (TAR) syndrome is primarily characterised by the following two features: fetal thrombocytopenia absent fetal radii (bilaterally) with the presence of both thumbs Epidemiology The condition is extremely rare with an estimated incidence of 0.4 per 100,000 bi...
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Top of the basilar syndrome

Top of the basilar syndrome, also known as rostral brainstem infarction, occurs when there is thromboembolic occlusion of the top of the basilar artery. This results in bilateral thalamic ischaemia due to occlusion of perforator vessels. Clinical presentation Clinically, top of the basilar syn...
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Townes-Brocks syndrome

Townes-Brocks syndrome (Renal-Ear-Anal-Radial (REAR) syndrome) is a rare autosomal dominant disease characterised by renal, anal, ear, and thumb abnormalities. Clinical presentation The major manifestations of this syndrome include: renal: displaced or rotated kidneys, horseshoe kidney, p...
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Trotter syndrome

Trotter syndrome relates to advanced nasopharyngeal carcinoma and is the constellation of: unilateral conductive hearing loss due to middle ear effusion trigeminal neuralgia due to perineural spread soft palate immobility
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Trousseau syndrome

Trousseau syndrome is referred to by a number of names, such as migratory thrombophlebitis and cancer-associated thromboembolism, but is essentially the association of venous thrombosis provoked by a yet to be diagnosed malignancy.
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Turcot syndrome

Turcot syndrome is one of the variations in polyposis syndromes. Epidemiology Patients typically present in the second decade 3. Pathology Turcot syndrome  is characterised by: intestinal polyposis CNS tumours: most commonly glioblastoma or medulloblastoma Genetics It is thought to carry...
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Turner syndrome

Turner syndrome, also known as 45XO or 45X, is the most common of the sex chromosome abnormalities in females.  Epidemiology The incidence is estimated at 1:2000-5000 of live births, although the in utero rate is much higher (1-2% of conceptions) due to a significant proportion of fetuses with...
Article

Twin embolisation syndrome

The twin embolisation syndrome (TES) is a rare complication of a monozygotic twin pregnancy following an in utero demise of the co-twin. Pathology It was traditionally thought to result from the passage of thromboplastic material into the circulation of the surviving twin which causes ischemic...
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Twin-twin transfusion syndrome

Twin to twin transfusion syndrome (TTTS) is a potential complication that can occur in a monochorionic twin (either MCDA or MCMA) pregnancy.  Epidemiology This complication can occur in ~10% (range 15-25%) of monochorionic pregnancies giving an estimated prevalence of ~1:2000 of all pregnancie...
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Ulnar dimelia

Ulnar dimelia or mirror hand syndrome is a rare congenital anomaly of the upper limb characterized by absence of the radial ray (including thumb), duplication of the ulna and duplication of the ulnar halves of the carpals, metacarpals and phalanges 1. Pathology Embryology The embryology of mi...
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Ulnar styloid impaction syndrome

Ulnar styloid impaction syndrome refers to wrist pain due to a long ulnar styloid process impacting upon the triquetral bone. Pathology An unlar styloid >6mm in length is commonly regarded as being long. Impaction results in chondromalacia of the opposing articular surfaces, i.e. the proximal ...
Article

VACTERL association

VACTERL is an acronym that describes a non-random constellation of congenital anomalies. It is not a true syndrome as such and is equivalent to the VATER anomaly. Epidemiology The estimated incidence is 1 in 10,000-40,000 births 3. Pathology The acronym VACTERL derives from: V: vertebral an...
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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 one of the most common clefting syndromes in humans 1.  VWS individuals have a high prevalence of hypodontia. Pathology Genetics It carries anautoso...
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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...
Article

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. 
Article

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...
Article

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 cerebral peduncle and the ipsilateral fascicles of the oculomotor nerve 1-3. Clinical presentation ipsilateral CN III palsy contralateral hemiplegia or hemiparesis Pathology It is usually caused by an ischaemic stroke, typically...
Article

Wellens syndrome

Wellens syndrome (also referred to as LAD coronary T-wave syndrome) refers to a specific ECG abnormality in the precordial T-wave segment. It can be associated with a critical stenosis of the proximal left anterior descending artery.
Article

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 aphasia

Wernicke aphasia, also known as receptive aphasia or fluent aphasia, is the inability to grasp the meaning of spoken or written words and sentences while producing connected speech is not greatly affected. Receptive aphasia is usually caused by injury to the dominant posterior temporal lobe (We...
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Wernicke encephalopathy

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 mammillary bodies, dorsomedial thalami, ...
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 syndrome: an ocular motility disturbance due to fibrosis of the extraocu...
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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...
Article

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...
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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...
Article

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 comprising unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction 1. Clinical presentation Patients are typically diagnosed during the 3rd or 4th decade of life and often present with perineal pain, re...
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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