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.
639 results found
Article
≤11 ribs (differential)
≤11 ribs is associated with a number of congenital abnormalities and skeletal dysplasias, including:
Down syndrome (trisomy 21)
campomelic dysplasia
kyphomelic dysplasias
asphyxiating thoracic dysplasia (Jeune syndrome)
short rib polydactyly syndromes
trisomy 18
chromosome 1q21.1 deletion...
Article
18q-deletion syndrome
18q-deletion syndrome is a rare chromosomal anomaly where there is a deletion of part of the long arm of chromosome 18. Associated symptoms and findings vary widely, as do their severity. Characteristic clinical features include short stature, intellectual disability, hypotonia, facial, and dist...
Article
1p36 deletion syndrome
1p36 deletion syndrome, or monosomy 1p36, is a chromosomal abnormality characterized most commonly by a deletion in the distal segment of the short arm of chromosome one 1.
Epidemiology
The 1p36 deletion syndrome is present in approximately 1 in 5,000 live births. It is the most common termina...
Article
4D syndrome
4D syndrome is a term used to describe a manifestation of syndromic glucagonomas, a type of pancreatic endocrine tumor.
D: dermatitis 2
necrolytic migratory erythema - a widespread rash, tending to involve perioral and perigenital regions
oral rashes (angular stomatitis, cheilitis)
tend to r...
Article
Aarskog syndrome
Aarskog syndrome or Aarskog–Scott syndrome (also known as the facio-digito-genital syndrome) is a rare anomaly characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia.
Epidemiology
Population pre...
Article
Aase-Smith syndrome
Aase-Smith syndrome (or Aase syndrome) is an extremely rare congenital disorder characterized by anemia and skeletal deformity.
Epidemiology
Aase-Smith syndrome has a prevalence of less than 1 per 1,000,000 persons. There have only been 20 reported cases
Clinical presentation
congenital hypo...
Article
Abdominal compartment syndrome
Abdominal compartment syndrome (ACS) is a disease defined by the presence of new end-organ dysfunction secondary to elevated intraabdominal pressure (IAP). Radiological diagnosis is difficult and usually suggested when a collection of imaging findings are present in the appropriate clinical sett...
Article
Abdominal migraine
Abdominal migraine is a syndrome which presents as recurrent episodes of severe abdominal pain, coupled with vasomotor symptoms, nausea, and emesis. Historically it has tended to be a pediatric diagnosis, but it is now increasingly seen in adults. It is one of the functional gastrointestinal dis...
Article
Acardius anephus
Acardius anephus is a morphologic subtype of an acardiac twin in the twin reversed arterial perfusion (TRAP) sequence. In this entity, no cephalic or structures are present, but the lower limbs are preserved. This is the most common subtype, seen in 60-75% of cases1.
Article
Accessory navicular syndrome
Accessory navicular syndrome occurs when a type II accessory navicular becomes painful due to movement across the pseudo-joint between the ossicle and the navicular bone.
Radiographic features
Ultrasound
It can be inferred on musculoskeletal ultrasound if a patient's pain is located at a type...
Article
Achondrogenesis
Achondrogenesis refers to a group of rare and extreme skeletal dysplasias.
Epidemiology
The estimated incidence is 1:40,000 with no recognized gender predilection.
Pathology
It is classified as an osteochondrodysplasia, meaning deficiency of both bone and cartilage development.
Subtypes
T...
Article
Acrocephalosyndactyly
Acrocephalosyndactyly syndromes (ACS) are a rare group of disorders collectively characterized by:
calvarial anomalies, e.g. craniosynostoses
digital anomalies, e.g. syndactyly
Classification
While there can be some overlap in features, they can be primarily classified into the following maj...
Article
Acrodysostosis
Acrodysostosis is a rare skeletal dysplasia characterized by growth retardation, nasal hypoplasia, brachydactyly, midfacial deficiency, intellectual disability and deafness.
Pathology
Most cases are sporadic. Few cases with autosomal dominant transmission have been reported. It is believed to ...
Article
Acute aortic syndrome
Acute aortic syndrome describes the presentation of patients with one of a number of life-threatening aortic pathologies that give rise to aortic symptoms.
The spectrum of these aortic emergencies include:
aortic dissection
aortic intramural hematoma
penetrating atherosclerotic ulcer
aortic...
Article
Acute compartment syndrome
Acute compartment syndrome is a limb and life-threatening surgical emergency. It is a painful condition caused by increased intracompartmental pressure, compromising perfusion and resulting in muscle and nerve damage within that compartment.
Epidemiology
Acute compartment syndrome is more comm...
Article
Acute coronary syndrome
Acute coronary syndrome (ACS) is a group of cardiac diagnoses along a spectrum of severity due to the interruption of coronary blood flow to the myocardium, which in decreasing severity are:
ST elevation myocardial infarction (STEMI)
non-ST elevation myocardial infarction (NSTEMI)
unstable an...
Article
Acute respiratory distress syndrome
Acute respiratory distress syndrome (ARDS) is a form of acute lung injury and occurs as a result of a severe pulmonary injury that causes alveolar damage heterogeneously throughout the lung. It can either result from a direct pulmonary source or as a response to systemic injury.
Terminology
A...
Article
Acute spinal cord ischemia syndrome
Acute spinal cord ischemia syndrome is uncommon, but usually presents with profound neurological signs and symptoms, and the prognosis is poor.
Epidemiology
Acute spinal cord ischemia syndrome represents only 5-8% of acute myelopathies 4,5 and <1% of all strokes 7. The demographic of affected...
Article
Adams-Oliver syndrome
The Adams-Oliver syndrome (AOS) is a rare disorder characterized by aplasia cutis congenita (missing hair and/or skin) and variable degrees of terminal transverse limb defects.
Associations
polymicrogyria: can be associated with a variant of Adams-Oliver syndrome 3
Article
Adductor canal syndrome
Adductor canal syndrome (also known as adductor canal compression syndrome) is a rare, non-atherosclerotic cause of arterial occlusion and limb ischemia 1. There is compression of the superficial femoral artery (SFA) in the adductor canal.
Epidemiology
External compression of the superficial f...
Article
Adie syndrome
Adie syndrome, also known as Holmes-Adie syndrome, is a rare neurological disorder.
Epidemiology
Adie syndrome is a rare condition which is most commonly seen in young females in their fourth decade of life 2,3.
Clinical presentation
Patients most commonly present with a classic triad of:
d...
Article
Agraphia
Agraphia represents acquired impairments of writing ability secondary to damage or dysfunction of the central nervous system. Impairments caused solely by motor dysfunction (e.g. hand paresis or tremor) are not considered to be forms of agraphia 1.
Clinical presentation
Agraphia is rarely an i...
Article
Aicardi-Goutières syndrome
Aicardi-Goutières syndrome is a rare hereditary neurodegenerative disease which usually presents in early infancy with systemic and central nervous system inflammatory syndrome characterized by hepatosplenomegaly, vasculopathy and encephalopathy. Many of the features are similar to congenital TO...
Article
Aicardi syndrome
Aicardi syndrome is a rare severe developmental disorder. It results from an X-linked genetic defect that is fatal in males and therefore only manifests in females (except for rare 47, XXY cases).
Note: Aicardi syndrome is distinct from Aicardi-Goutieres syndrome although both are named after J...
Article
Alagille syndrome
Alagille syndrome (also known as arteriohepatic dysplasia) is a congenital genetic multisystem disorder.
Clinical presentation
Infants typically present with symptoms relating to the liver where it is one of the most common causes of hereditary cholestasis.
Genetics
Alagille syndrome is inhe...
Article
Alexia
Alexia (or acquired dyslexia) is a neurological term refers to an acquired impairment of reading resulting from damage of critical brain areas.
Clinical presentation
Alexia can manifest itself as an impairment of oral reading and reading comprehension alike and can occur in combination with va...
Article
Allgrove syndrome
Allgrove syndrome (also known as triple A syndrome) is an autosomal recessive condition that consists of three main findings:
achalasia
alacrima
ACTH insensitivity
Article
All-trans retinoic acid syndrome
All-trans retinoic acid (ATRA) syndrome, more recently known as differentiation syndrome (DS) 8, is a condition that can occur with patients with acute promyelocytic leukemia who are on therapeutic all-trans-retinoic acid (ATRA).
All-trans-retinoic acid (ATRA) is a normal constituent of plasma ...
Article
Alpers syndrome
Alpers syndrome, also known as Alpers-Huttenlocher syndrome or progressive cerebral poliodystrophy, is a rare childhood neurodegenerative POLG-related disorder. Along with Leigh syndrome, it is one of the commonest childhood mitochondrial disorders 1.
Epidemiology
Alpers syndrome is incredibl...
Article
Alpha thalassemia/intellectual disability syndrome X-linked (ATRX) gene (tumor marker)
Alpha-thalassemia/intellectual disability syndrome X-linked (ATRX) gene is an important genomic marker of gliomas and is either intact (ATRX wild-type) or mutated (ATRX-mutant) and is correlated with other important genomic markers including IDH, 1p19q codeletion and p53 expression 1,2.
ATRX a...
Article
Alport syndrome
Alport syndrome is an X-linked dominant disease characterized by progressive sensorineural hearing loss, renal disease and, at times, ocular lesions.
Clinical presentation
hematuria
sensorineural hearing loss: typically high frequency 2
ocular abnormalities
anterior lenticonus: most common ...
Article
Amelia
Amelia refers to a skeletal dysplasia characterized by the complete agenesis of an upper or lower extremity or all four limbs. It may be associated with other congenital anomalies, i.e. omphalocele and diaphragmatic hernias 3.
Epidemiology
Amelia is a very rare congenital anomaly with an incid...
Article
Amniotic band syndrome
Amniotic band syndrome (ABS) comprises of a wide spectrum of abnormalities, all of which result from entrapment of various fetal body parts in a disrupted amnion. Due to the randomness of entrapment, each affected individual has the potential to form a unique deficit.
Epidemiology
The phenomen...
Article
Androgen insensitivity syndrome
Androgen insensitivity syndrome (AIS), also known as the testicular feminization syndrome, results from end-organ resistance to androgens, particularly testosterone. AIS may be complete or incomplete with variable imaging findings.
Epidemiology
The incidence may vary depending on whether it i...
Article
Anterior ankle impingement syndrome
Anterior ankle impingement (AAI) syndrome is the result of chronic repetitive trauma with impingement of the anterior tibia against the talus.
Epidemiology
Common in soccer players and ballet dancers 1.
Clinical presentation
Clinical features of anterior ankle impingement syndrome include pa...
Article
Anterior choroidal artery syndrome
Anterior choroidal artery syndrome is a rare entity characterized by the triad of
hemiplegia
hemianaesthesia and
contralateral hemianopia
This occurs as a result of cerebral infarction in the anterior choroidal artery territory.
The syndrome may also be associated with neuropsychological di...
Article
Anterior resection syndrome
Anterior resection syndrome refers to wide spectrum of symptoms which develop post-sphincter preserving rectal resection for rectal cancer.
Pelvic radiotherapy is a known risk factor to develop anterior resection syndrome.
Epidemiology
There have been reports that up to 47% of patients who un...
Article
Anti-GQ1b IgG antibody syndrome
Anti-GQ1b IgG antibody syndrome refers to a number of conditions which share autoantibodies to the ganglioside complex GQ1b, and have overlapping clinical spectrums.
The conditions believed to represent various clinical manifestations of a common immunological disorder include 1:
acute ophth...
Article
Antiphospholipid syndrome
Antiphospholipid syndrome is a systemic autoimmune disorder. It is usually defined as the clinical complex of vascular occlusion and ischemic events occurring in patients who have circulating antiphospholipid antibodies.
Clinical presentation
Antiphospholipid syndrome is characterized by venou...
Article
Antiphospholipid syndrome (pulmonary manifestations)
Pulmonary involvement in antiphospholipid syndrome is one of the most frequent arterial complications of antiphospholipid syndrome.
Pathology
It is essentially related to pulmonary arterial microthrombosis and may cause a wide spectrum of conditions, which include 3-5:
pulmonary thromboembol...
Article
Anti-synthetase syndrome
Anti-synthetase syndrome (ASS) is a systemic, inflammatory, autoimmune disease that is characterized by inflammatory myositis, polyarthritis associated with interstitial lung disease (ILD), and anti-synthetase autoantibodies.
Pathology
Anti-synthetase syndrome can result from autoantibodies to...
Article
Antley-Bixler syndrome
Antley-Bixler syndrome (ABS), also known as trapezoidocephaly-synostosis syndrome, is a rare autosomal dominant or recessive condition characterized by craniosynostosis and extra-cranial synostoses. Mid-facial hypoplasia is also common.
Epidemiology
It is a very rare condition with only 50 cas...
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 ...
Article
Apical hypertrophic cardiomyopathy
Apical hypertrophic cardiomyopathy (AHCM or ApHCM), also known as Yamaguchi syndrome, is a rare form of hypertrophic cardiomyopathy which usually involves the apex of the left ventricle, rarely involves the right ventricular apex, or involves both apices.
Epidemiology
Historically, this condit...
Article
Arterial tortuosity syndrome
Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive connective tissue disease. It is similar to Ehlers-Danlos syndrome (EDS), the major differentiator being the general tortuous nature of the larger arteries.
Clinical presentation
It presents similarly to other collagen disor...
Article
Asherman syndrome
Asherman syndrome, also known as uterine synechiae, is a condition characterized by the formation of intrauterine adhesions, which are usually sequela from injury to the endometrium, and is often associated with infertility.
Epidemiology
There is a tendency for the condition to develop soon af...
Article
Asphyxiating thoracic dysplasia
Asphyxiating thoracic dysplasia, also known as Jeune syndrome, is a type of rare short limb skeletal dysplasia, which is primarily characterized by a constricted long narrow thoracic cavity, cystic renal dysplasia and characteristic skeletal features. It is also sometimes classified as one of th...
Article
Asplenia syndrome
Asplenia syndrome, also known as right isomerism or Ivemark syndrome, is a type of heterotaxy syndrome.
Epidemiology
There is an increased male predilection. Asplenia syndrome is usually diagnosed in neonates 4.
Associations
severe/complex congenital heart disease (50%), especially cyanotic ...
Article
Asymmetric ventriculomegaly, interhemispheric cyst and dysgenesis of the corpus callosum (AVID)
Asymmetric ventriculomegaly, interhemispheric cyst, and dysgenesis of the corpus callosum (AVID) is a triad of congenital cerebral anomalies.
Radiographic features
markedly asymmetric enlargement of the lateral ventricles may be the initial finding on routine fetal morphology ultrasound.
inte...
Article
Ataxia telangiectasia
Ataxia-telangiectasia is a rare multisystem disorder that carries an autosomal recessive inheritance, sometimes classified as a phakomatosis. It is characterized by multiple telangiectasias, cerebellar ataxia, pulmonary infections, and immunodeficiency.
On brain imaging, it usually demonstrate...
Article
Atelosteogenesis
Atelosteogenesis refers to a heterogeneous group of lethal skeletal dysplasias that are characterized by aplasia/hypoplasia of the humeri, femora and spine.
Pathology
Subtypes
atelosteogenesis type I (boomerang dysplasia)
atelosteogenesis type II
atelosteogenesis type III 4
Article
Athlete heart syndrome
Athlete heart syndrome refers to adaptations in both cardiac structure and function seen in people engaged in high-performance and endurance physical exercise.
Epidemiology
The prevalence of the condition has increased due to the increased popularity of recreational exercise, approx 3.6/100,00...
Article
Autoinflammatory diseases with periodic fevers
There are several autoinflammatory diseases with periodic fevers. These include
familial mediterranean fever (FMF)
cryopyrin-associated periodic syndrome (CAPS)
tumor necrosis factor receptor-associated periodic fever syndrome (TRAPS)
hyperimmunoglobulinemia D and periodic fever syndrome / m...
Article
Autonomic dysreflexia
Autonomic dysreflexia (AD) is a life-threatening condition prevalent amongst patients with high spinal cord injury (SCI) and may occur any time after injury. It is a syndrome characterized by an exaggerated reflex increase in blood pressure, usually accompanied by bradycardia in response to a st...
Article
Babinski-Nageotte syndrome
Babinski-Nageotte syndrome is thought to be a brainstem stroke syndrome in between that of the hemimedullary syndrome (Reinhold syndrome) and the lateral medullary syndrome (Wallenberg syndrome) 1,2.
Terminology
In many texts this eponymous syndrome is incorrectly used synonymously with hemim...
Article
Bálint syndrome
Bálint syndrome is characterized by:
simultanagnosia (inability to perceive more than one object at a time)
optic ataxia
oculomotor apraxia
Pathology
It typically results from damage to the parieto-occipital regions, and has been associated with 1-3:
corticobasal degeneration
posterior co...
Article
Bannayan–Riley–Ruvalcaba syndrome
Bannayan–Riley–Ruvalcaba syndrome (BRRS or BRR syndrome) is a very rare autosomal dominant hamartomatous disorder caused by a mutation in the PTEN gene. It is considered in the family of hamartomatous polyposis syndrome.
There are no formal diagnostic criteria for this disease, but characterist...
Article
Bannayan-Zonana syndrome
Bannayan-Zonana syndrome, also known as Bannayan-Riley-Ruvalcaba syndrome, is a rare hamartomatous disorder.
Epidemiology
Male predominance is reported 1.
Clinical presentation
Bannayan-Zonana syndrome is characterized by:
macrocephaly
multiple lipomas
hemangiomas 1
Other findings that...
Article
Bardet-Biedl syndrome
Bardet-Biedl syndrome (BBS), previously known as the Laurence-Moon-Bardet-Biedl syndrome (LMBBS), is a rare autosomal recessive hereditary condition.
Clinical presentation
The clinical spectrum includes:
retinal anomalies: similar to that of retinitis pigmentosa
intellectual disability
rena...
Article
Barth syndrome
Barth syndrome (BTHS), also known as 3-methylglutaconic aciduria type II, is an extremely rare X-linked multisystem disorder that is usually diagnosed in infancy.
Epidemiology
Barth syndrome has an estimated prevalence of 1 in 300,000-400,000 live births.
Clinical presentation
It is characte...
Article
Bartter syndrome
Bartter syndrome is a rare inherited renal disorder.
Pathology
Bartter syndrome is characterized by hyperplasia of the juxtaglomerular cells along with:
hypokalemia
metabolic alkalosis
hypotension/normotension
elevated plasma renin
elevated aldosterone
antenatal polyhydramnios
Classific...
Article
Beckwith-Wiedemann syndrome
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder characterized by a unique set of features that can consist of:
macroglossia: most common clinical finding 4
otic dysplasia ref
omphalocoele
localized gigantism / macrosomia
hemihypertrophy
cardiac anomalies
pancreatic i...
Article
Benedikt syndrome
Benedikt syndrome, or paramedian midbrain syndrome, is a midbrain stroke syndrome that involves the fascicles of the oculomotor nerve and the red nucleus.
Clinical presentation
ipsilateral CN III palsy 1-4
crossed hemiataxia 1-4
crossed choreoathetosis 1-4
Pathology
It is usually caused by...
Article
Benign paroxysmal positional vertigo
Benign paroxysmal positional vertigo (BPPV) is one of the most common causes of vertigo. It occurs secondary to change in posture and typically is associated with nystagmus. The etiology is thought to be due to changes of position of the otoliths in the inner ear, most commonly into the posterio...
Article
Bertolotti syndrome
Bertolotti syndrome refers to the association between lumbosacral transitional vertebrae and low back pain.
Although it may be a consideration in younger patients, the entity is considered controversial and has been both supported and disputed since the Italian radiologist Mario Bertolotti (187...
Article
Big black brain
Big black brain is a radiologic pattern unique to infants and toddlers in the context of traumatic brain injury, most frequently due to abusive head trauma.
The CT presentation is a parenchymal hypodensity and uniform loss of gray-white differentiation in the entire hemisphere, associated with...
Article
Bile plug syndrome
Bile plug syndrome, also known as inspissated bile syndrome, is an uncommon cause of jaundice in neonates. Refers to a rare extrahepatic mechanical obstruction of the major bile duct in the perinatal period caused by viscous bile (sludge) within its lumen 3.
Epidemiology
Risk factors
Risk fa...
Article
Bile sump syndrome
Bile sump syndrome refers to a complication following a side-to-side choledochoduodenostomy.
Epidemiology
This complication occurs in ~1% of patients following a side-to-side choledochoduodenostomy.
Clinical presentation
Recurrent abdominal pain, cholangitis, pancreatitis, or biliary obstr...
Article
Bing-Neel syndrome
Bing-Neel syndrome is an extremely rare neurological complication of Waldenström macroglobulinemia where there is malignant lymphocyte infiltration into the central nervous system (CNS).
Epidemiology
The exact incidence is unknown, however, in one study of patients with Waldenström macroglobul...
Article
Birt-Hogg-Dubé syndrome
Birt-Hogg-Dubé syndrome or folliculin gene-associated syndrome is a genetic multisystemic disease mainly characterized by:
multiple lung cysts and secondary spontaneous pneumothoraces
multiple bilateral renal tumors (particularly chromophobe renal cell cancer and oncocytoma)
cutaneous manifes...
Article
Blueberry muffin syndrome
Blueberry muffin syndrome (a.k.a. blueberry muffin baby or rash) refers to a skin appearance seen in pediatric patients with multiple raised cutaneous, classically blue/purple lesions which is due to extramedullary hematopoiesis in the dermis.
The syndrome was originally described in congenital...
Article
Blue rubber bleb nevus syndrome
Blue rubber bleb nevus syndrome (BRBNS) or Bean syndrome, is a rare sporadic syndrome characterized by multifocal venous anomalies. Patients often have multiple soft blue skin lesions (blueberry muffin syndrome) associated with multiple bowel venous malformations, which could lead to lower gastr...
Article
Bogorad syndrome
Bogorad syndrome also known as the syndrome of crocodile tears, is characterized by residual facial paralysis with profuse lacrimation during eating. This phenomenon is also known as paroxysmal lacrimation or the gustolachrymal reflex. It is caused by a misdirection of the regenerating autonomic...
Article
Bone marrow edema syndrome
Bone marrow edema syndrome refers to a group of transient, self-limiting clinical entities of unknown cause, which are associated with the presence of bone marrow edema pattern.
These conditions include:
transient osteoporosis of the hip
bone marrow edema syndrome of the foot and ankle
regio...
Article
Bone marrow edema syndrome of the foot and ankle
Bone marrow edema syndrome of the foot and ankle, also known as transient bone marrow edema syndrome of the foot and ankle, refers to the presence of self-limited, patchy bone marrow T2 hyperintensities in the bones of the ankle and/or foot of unknown etiology. It is related to transient osteopo...
Article
Börjeson-Forssman-Lehmann syndrome
Börjeson-Forssman-Lehmann syndrome (BFLS) is an extremely rare disorder characterized by
intellectual disability
obesity
seizures
gonadal failure (testes in males or the ovaries in females) to produce hormones (hypogonadism)
distinctive facial features.
Affected infants tend to experience ...
Article
Bouveret syndrome
Bouveret syndrome refers to a gastric outlet obstruction secondary to impaction of a gallstone in the pylorus or proximal duodenum. Thus, it can be considered a very proximal form of gallstone ileus.
Clinical presentation
Bouveret syndrome occurs most commonly in elderly women. The presenting...
Article
Branchio-oculo-facial syndrome
Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant genetic disorder that is characterized clinically by abnormalities affecting the eyes, craniofacial structures, and branchial sinuses.
Epidemiology
More than 80 cases have been reported in the global literature since its f...
Article
Branchio-otic syndrome
Branchio-otic syndrome (also known as BOS, BOS1, BO syndrome 1 and branchiootic dysplasia) is a rare autosomal dominant disease. It manifests as abnormalities of the second branchial arch, with predominant abnormalities of the ear. No renal disease is seen, in contradistinction to its close name...
Article
Branchio-oto-renal dysplasia
Branchio-oto-renal (BOR) dysplasia, syndrome, or spectrum disorder is a rare syndromic disorder characterized by cervical branchial apparatus anomalies, ear malformations, and renal anomalies. If there are no renal anomalies, then it is more likely to be branchiootic dysplasia.
Pathology
When ...
Article
Brissaud-Sicard syndrome
Brissaud-Sicard syndrome is a very rare pontine stroke syndrome that involves the anterolateral and inferior pons.
Clinical presentation
Classically, the syndrome presents as ipsilateral facial cramps and contralateral hemiparesis 1-3.
Pathology
It has been postulated that the syndrome is ca...
Article
Brown-Séquard syndrome
Brown-Séquard syndrome, also known as hemicord syndrome, is the result of damage to, or impairment of, the left or right side of the spinal cord. It is characterized by a characteristic pattern of motor and sensory deficits that are determined by the decussation pattern of various white matter t...
Article
Brown syndrome (orbit)
The Brown syndrome refers to an inability of a patient to perform an upward gaze while the eye is adducted due to an abnormality of the superior oblique tendon sheath complex.
History and etymology
It was first described by Allan Brown in 1950 1.
See also
Brown-Sequard syndrome
Article
Brugada syndrome
A cardiac "channelopathy" resulting from mutations in genes coding for cardiac sodium (Na+) channels, the Brugada syndrome is a common cardiac cause of sudden death in patients with structurally normal hearts.
Epidemiology
Age of diagnosis ranges from 2 days to 84 years old. It is estimated to...
Article
Bruns syndrome
Bruns syndrome occurs in patients with an obstructing intraventricular mass and consists of abrupt paroxysms of:
severe headache
vertigo
vomiting
The symptoms are characteristically exacerbated with sudden movements of the head.
Pathology
There are two main theories as to the pathogenesis ...
Article
Budd-Chiari syndrome
Budd-Chiari syndrome, also known as hepatic venous outflow obstruction (HVOO), refers to the clinical picture that occurs when there is partial or complete obstruction of the hepatic veins.
There is no clear consensus regarding the number of occluded veins, some authors claim that there should...
Article
Buried bumper syndrome
Buried bumper syndrome (BBS) is a rare but important complication in patients with a percutaneous gastrostomy tube, occurring by migration of the internal bumper along its track. The tube may get lodged anywhere between the gastric wall and the skin and lead to life-threatening complications inc...
Article
Buschke-Ollendorff syndrome
Buschke-Ollendorff syndrome (BOS), also known as disseminated dermatofibrosis lenticularis 2, comprises of osteopoikilosis associated with disseminated connective tissue and cutaneous yellowish nevi, predominantly on the extremities and trunk 1. Recent genetic work has linked this syndrome to ...
Article
Caffey disease
Caffey disease or infantile cortical hyperostosis is a largely self-limiting disorder which affects infants. It causes bone changes, soft-tissue swelling, and irritability.
It is distinct from physiological periostitis which can be seen involving the diaphyses of the tibiae, humeri, and femora ...
Article
Campomelic dwarfism
Campomelic dwarfism, also known as campomelic dysplasia, is a rare form of skeletal dysplasia.
Epidemiology
Campomelic dwarfism is rare with an estimated incidence of ~1:200,000 births.
Associations
genital malformations: may be present in ~66% of patients 6
Clinical presentation
Diagnos...
Article
Camptocormia
Camptocormia (bent spine syndrome or cyphose hystérique) is a rare syndrome characterized by involuntary flexion of the thoracolumbar spine with weight-bearing which reduces when laying down, and is due to isolated atrophy of the paraspinal muscles.
Epidemiology
In a small case series (n=16), ...
Article
Camptodactyly arthropathy coxa vara pericarditis syndrome
Camptodactyly arthropathy coxa vara pericarditis (CACP) syndrome is a rare condition principally characterized by
congenital or early-onset camptodactyly and childhood-onset non-inflammatory arthropathy
coxa vara deformity or other dysplasia associated with progressive hip disease
pericardit...
Article
Camurati-Engelmann disease
Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia, is a rare autosomal dominant sclerosing bone dysplasia. It begins in childhood and follows a progressive course.
Clinical presentation
Common symptoms include extremity pain, muscle weakness, cranial nerve impairment a...