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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.

626 results found
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Systemic inflammatory response syndrome

The systemic inflammatory response syndrome (SIRS) refers to a pathophysiological state in patients with a critical non-infectious or infectious illness. It is non-specific and although commonly associated with sepsis can be seen in many life-threatening illnesses. Clinical presentation Diagno...
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Tarsal tunnel syndrome

Tarsal tunnel syndrome refers to an entrapment neuropathy (tunnel syndrome) 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...
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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 hemorrhage associated with subarachnoid hemorrhage, however, some authors include retinal hemorrhage as well. The syndrome is a poor prognostic marker in patients with subarachnoid hemorrhage. Epidemiology Terson syndrome has been reported to occur in 13-50% ...
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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. Pathology Genetics It results from a mutation coding for the fibroblast gro...
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Thiamine deficiency

Thiamine deficiency is caused by a low level of thiamine (vitamin B1) in the body, and when severe, a deficiency may manifest in adults as beriberi.There are two main forms: wet beriberi: high-output cardiac failure predominates Shoshin beriberi 3: severe acute wet form with high mortality dr...
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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 11.  Clinical presentation Clinical presentation will depend on the structure com...
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Thrombocytopenia with absent radius syndrome

Thrombocytopenia with absent radius (TAR) syndrome is primarily characterized 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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Thyrotoxicosis

Thyrotoxicosis is a hypermetabolic clinical syndrome caused by a pathological excess of circulating free T4 (thyroxine) and/or free T3 (tri-iodothyronine). Terminology Although commonly done, thyrotoxicosis should not be confused with, nor is it synonymous with hyperthyroidism. The latter term...
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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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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 ischemia due to occlusion of perforator vessels. Clinical presentation Clinically, top of the basilar synd...
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Townes-Brocks syndrome

Townes-Brocks syndrome (Renal-Ear-Anal-Radial (REAR) syndrome) is a rare autosomal dominant disease characterized 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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Toxic shock syndrome

Toxic shock syndrome (TSS) is a severe bacterial-toxin mediated condition, characterized by an initial soft tissue infection, which rapidly progresses to systemic disease and circulatory collapse 5. It is due to a Gram positive infection, most frequently Staphylococcus aureus or Streptococcus py...
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Transient osteoporosis

Transient osteoporosis is a self-limited condition characterized by reparative bone remodeling, which can affect all weight-bearing joints, being most common in the femoral head. For detailed description of that condition see transient ostoporosis of the hip.  Clinical presentation Typical sym...
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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...
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Trisomies

The trisomies are chromosomal anomalies which usually occur due to non-disjunction. The vast majority of affected fetuses are spontaneously aborted, often very early during gestation. Only three are compatible with extrauterine life (T13, T18, T21), and only one beyond early infancy (T21). In o...
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Trisomy 8 mosaic

Trisomy 8 mosaicism or Warkany syndrome is 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 exhib...
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Trochanteric syndrome

Trochanteric syndrome (greater trochanteric pain syndrome) refers to pain that originates from the lateral hip region. Terminology Bursitis is not necessarily present and the often-used term trochanteric bursitis is therefore not always appropriate 1. Epidemiology Trochanteric syndrome most ...
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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 (not to be confused with Trousseau sign) represents the association between migratory thrombophlebitis and malignancy, particularly mucin-producing tumors; hence one of its other names: cancer-associated thromboembolism 1. History and etymology  Armand Trousseau (1801-1867),...
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Tumor necrosis factor receptor-associated periodic syndrome

Tumor necrosis factor receptor-associated periodic syndrome (or sometimes abbreviated as TRAPS) is a condition characterized by recurrent (periodic) episodes of fever as well as spectrum of dermatologic findings, including migratory patches, edematous plaques, periorbital edema, and/or conjuncti...
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Turcot syndrome

Turcot syndrome is one of the variations in polyposis syndromes. It is characterized by multiple colonic polyps and an increased risk of colon and primary brain cancers. Epidemiology Turcot syndrome is a rare disease. Patients typically present in the second decade 3. Pathology Turcot syndro...
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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...
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Twin embolization syndrome

Twin embolization 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 str...
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Twin-to-twin transfusion syndrome

Twin to twin transfusion syndrome (TTTS) is a potential complication that can occur in a monochorionic (either MCDA or MCMA) twin 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 impaction syndrome

Ulnar impaction syndrome, also known as ulnar abutment or ulnocarpal impaction or loading, is a painful degenerative wrist condition caused by the ulnar head impacting upon the ulnar-sided carpus with the injury to the triangular fibrocartilage complex (TFCC). Differentiation from ulnar impinge...
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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 ulnar styloid >6 mm in length is commonly regarded as being long. Impaction results in chondromalacia of the opposing articular surfaces, i.e. the proximal...
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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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Valgus extension overload syndrome

Valgus extension overload syndrome, also known as pitcher's elbow, refers to a constellation of symptoms and pathologies commonly seen in overhead throwing athletes secondary to high repetitive tensile, shear and compressive forces generated by the overhead throwing motion. The syndrome may cor...
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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 and affected individuals have a high prevalence of hypodontia. Pathology Genetics It carries an aut...
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Van Wyk Grumbach syndrome

Von Wyk Grumbach syndrome is characterized by chronic hypothyroidism with high levels of thyroid-stimulating hormone (TSH), delayed bone age, precocious puberty but lacking pubic and axillary hair growth 1.  Epidemiology The acquired form of hypothyroidism is seen in children caused by chronic...
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Vascular syndromes

The are numerous vascular syndromes that can occur in the body. They include: Syndromes principally involving the vascular system Budd-Chiari syndrome celiac artery compression syndrome hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) hypothenar hammer syndrome Kasabach-M...
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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 occurs...
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Vaughan-Jackson syndrome

Vaughan-Jackson syndrome describes a rare syndrome of sequential atraumatic extensor tendon ruptures in the hand, usually in the setting of rheumatoid arthritis of the distal radioulnar joint. Clinical presentation The presentation is with reduced extension of the fingers 1-5. Typically, the f...
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Ventral cord syndrome

Ventral cord syndrome (also known as anterior cord syndrome) is one of the incomplete cord syndromes and affects the anterior parts of the cord resulting in a pattern of neurological dysfunction dominated by motor paralysis and loss of pain, temperature and autonomic function. Anterior spinal ar...
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Vernet syndrome

Vernet syndrome, also known as jugular foramen syndrome, is a constellation of cranial nerve palsies due to compression from a jugular foramen lesion, such as a glomus jugulare tumor, schwannoma, or metastasis 2. Clinical presentation It consists of motor paralysis of: glossopharyngeal nerve ...
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Vogt-Koyanagi-Harada syndrome

Vogt-Koyanagi-Harada syndrome is a multisystem disorder characterized 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 characterized by the development of numerous benign and malignant tumors in different organs (at least 40 types 1) due to mutations in the VHL tumor suppressor gene on chromosome 3. Epidemiology The disease is rare with an estimated prevalence of 1:35,000-50,...
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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 or complex stands for: Wilms tumors (greatly increased risk) aniridia genitourinary anomalies intellectual retardation (disability) Pathology Genetics Occurs from a mutation related to chromosome 11p13 3 which is in close proximity to the 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 characterized by: fetal hydrocephalus: almost always present neuronal migrational anomalies: agyria (cobblestone lissencephaly / lissencephaly ty...
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Waterhouse-Friderichsen syndrome

Waterhouse-Friderichsen syndrome (also known as purpura fulminans 9 or hemorrhagic adrenalitis 10) is characterized by adrenal insufficiency that results from atraumatic adrenal hemorrhage in consequence of septicemia.  Pathology Waterhouse-Friderichsen syndrome is due to septicemia and common...
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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 1-3,5. Occasionally the substantia nigra can also be involved 5.  Clinical presentation ipsilateral CN III palsy diplopia ptosis  afferent pupillary defect ...
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Wellens syndrome

Wellens syndrome (also referred to as LAD coronary T-wave syndrome) refers to an ECG pattern specific for critical stenosis of the proximal left anterior descending artery. The anomalies described occur in patients with recent anginal chest pain, and do not have chest pain when the ECG is record...
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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 characterized by premature senescence cataracts short stature scleroderma-like skin changes such ...
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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 a form of 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 thalam...
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Whipple triad

Whipple triad is the clinical presentation of pancreatic insulinoma and consists of: fasting hypoglycemia (<50 mg/dL) symptoms of hypoglycemia immediate relief of symptoms after the administration of IV glucose History and etymology The triad and also the Whipple procedure were both named a...
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White cord syndrome

White cord syndrome refers to the sudden onset of neurological deterioration following spinal decompressive surgery. The condition is believed to be a form of reperfusion injury of the spinal cord, not to be confused with central cord syndrome. Epidemiology White cord syndrome is rare with onl...
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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 extraocul...
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Williams syndrome

Williams syndrome (WS) 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 2 pulmonary artery stenosis 3 renal insuff...
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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. History and etymology Almost 51 years ago, Wilson...
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Wolff-Parkinson-White syndrome

The Wolff-Parkinson-White syndrome describes paroxysmal tachydysrhythmias in the presence of a specific accessory pathway which allows direct electrical connection between the atria and ventricles, which usually exclusively occurs via the atrioventricular (AV) node. The accessory pathway is usua...
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Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome (WHS) is an extremely rare chromosomal anomaly characterized by partial deletion of the p arm of chromosome 4 (4p16.3). Clinical presentation There is a large clinical spectrum: CNS agenesis of the corpus callosum hypertelorism coloboma seizures 4 craniofacial c...
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Wolfram syndrome (type one)

Wolfram syndrome type one, also known as DIDMOAD, is a disease caused by an autosomal recessive genetic trait, caused by mutations in the WFS1 gene, with incomplete penetrance. The syndrome presents with early onset of insulin-dependent diabetes mellitus, progressive optic atrophy, diabetes ins...
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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, diarrhea and vomiting. Abdominal dis...
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Wunderlich syndrome

Wunderlich syndrome is a rare condition in which spontaneous nontraumatic renal hemorrhage occurs into the subcapsular and perirenal spaces. Clinical presentation Wunderlich syndrome is clinically characterized by Lenk's triad: acute flank pain flank mass hypovolemic shock ​Mnemonic F: fl...
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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...
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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 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...
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Yunis-Varón syndrome

Yunis Varón syndrome is a rare skeletal dysplasia. It is thought to be autosomal recessive. Radiographic features severe neurologic impairment include small cerebellar vermis and dandy walker malformation cleidocranial dysplasia absent clavicles macrocrania diastasis of sutures micrognath...
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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. ...
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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 a high mutation rate and rare instances of germinal mosa...
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Zinner syndrome

Zinner syndrome is a triad of mesonephric (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 per...
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

Zuelzer-Wilson syndrome, also known as total colonic aganglionosis, is a subset of Hirschsprung disease, in which the whole colon is aganglionic. Epidemiology It is uncommon and accounts for 2-13% of cases of Hirschsprung disease 3,7. Compared with Hirschsprung disease which has a marked male ...

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