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.

879 results found
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Congenital pulmonary stenosis

Congenital pulmonary stenosis (CPS) refers to congenital narrowing of the right ventricular outflow tract, pulmonary valve or pulmonary artery. See pulmonary valve stenosis for a general discussion about this valvulopathy. Epidemiology The estimated incidence is 1 in 2000 births. Pathology ...
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Congenital radial head dislocation

Congenital radial head dislocation is the most common congenital elbow abnormality. It can occur in isolation, or more commonly may be associated with other conditions or syndromes. Epidemiology Overall, congenital radial head dislocation is rare 2. Clinical presentation Congenital radial he...
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Congenital renal anomalies

Congenital renal anomalies comprise of vast spectrum of pathologies and include: renal agenesis renal dysgenesis congenital renal hypoplasia congenital megacalyectasis congenital cystic renal disease infantile polycystic renal disease: autosomal recessive polycystic kidney disease (ARPKD):...
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Congenital spinal meningocele

Congenital spinal meningoceles are developmental anomalies of meningothelial elements displaced into the skin and subcutaneous tissues. Please refer on menigocele article for a broad overview of all types of this condition.  Pathology It is defect of the neural tube, an embryonic structure th...
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Congenital talipes equinovarus

Congenital talipes equinovarus (CTEV) is considered the most common anomaly affecting the feet diagnosed on antenatal ultrasound. Terminology While some use CTEV and clubfoot (CF) synonymously, in certain publications term clubfoot is considered a more general descriptive term that describes t...
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Congenital tracheo-oesophageal fistula

Congenital tracheo-oesophageal fistula is a congenital pathological communication between the trachea and oesophagus.   Epidemiology Tracheo-oesophageal fistula and oesophageal atresia have a combined incidence of approximately 1 in 3500 live births 1-3,5. There is only a minimal hereditary/ge...
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Conjoined twins

Conjoined twin pregnancy are rare occurrence resulting from failure of a zygote to separate completely after 13 weeks. This results in the twins being physically joined. Epidemiology The prevalence of conjoined twins ranges from 1:50,000 to 1:200,000. They are more common in parts of Southeast...
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Convolutional markings

Convolutional markings are normal impressions of the gyri on the inner table of the skull, seen predominantly posteriorly. If they are pronounced and over the more anterior parts of the skull, then this is referred to as a copper beaten skull and raises the possibility of raised intracranial pre...
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Copper beaten skull

Copper beaten skull, also known as beaten brass skull, refers to the prominence of convolutional markings (gyral impressions on the inner table of the skull) seen throughout the skull vault. Clinical presentation The appearance of copper beaten skull is associated with raised intracranial pres...
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Corkscrew sign

The corkscrew sign describes the spiral appearance of the distal duodenum and proximal jejunum seen in midgut volvulus. It has been identified as a diagnostic indicator of midgut volvulus 1. In patients with malrotation and volvulus, the distal duodenum and proximal jejunum do not cross the mid...
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Cornelia de Lange syndrome

Cornelia de Lange syndrome (CdLS) is an extremely rare clinically heterogenous developmental disorder of unknown aetiology. Epidemiology The estimated incidence is at ~1:10,000-160,000 births ref. There is no recognised racial or gender predilection 8. Clinical spectrum The syndrome carries ...
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Coronal vertebral cleft

Coronal vertebral cleft refers to the presence of a radiolucent vertical defect on a lateral radiograph.   Epidemiology It is most often seen in premature male infants 1,3. As they can occur as part of normal variation (especially in the lower thoracic-upper lumbar spine of premature infants) ...
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Cortical desmoid

Cortical desmoids, also known as cortical avulsive injuries or the Bufkin lesion, are a benign self-limiting entity. This is a classic "do not touch" lesion, and should not be confused with an aggressive cortical/periosteal process (e.g. osteosarcoma).  Terminology Cortical desmoid is a misnom...
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Costal cartilage fracture

Costal cartilage fractures are fractures of the cartilage connecting the ribs anteriorly to the sternum. Epidemiology There is little published data on costal cartilage fractures. Most reported cases are in males and resulted from blunt trauma or a fall 1,2. Clinical presentation In young ch...
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Cowden syndrome

Cowden syndrome, also known as multiple hamartoma syndrome, is characterised by multiple hamartomas throughout the body and increased risk of several cancers. Terminology Type 2 segmental Cowden syndrome is the association of Cowden syndrome with a Cowden naevus, when it is considered a type o...
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Coxa valga

Coxa valga describes a deformity of the hip where there is an increased angle between the femoral neck and femoral shaft.  Pathology Coxa valga is often associated with shallow acetabular angles and femoral head subluxation.  Aetiology bilateral neuromuscular disorders, e.g. cerebral palsy ...
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Coxa vara

Coxa vara describes a deformity of the hip where the angle formed between the head and neck of the femur and its shaft (Mikulicz angle) is decreased, usually defined as less than 120 degrees. Pathology It can be congenital or acquired. The common mechansim in congenital cases is a failure of m...
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Cozen fracture

Cozen fracture or phenomenon is the valgus angulation deformity of the tibia following a proximal tibial metaphyseal fracture in children. Epidemiology This typically occurs as a late deformity in children aged 3-6 years. Pathology Aetiology Proposed causes include: non-recognised or under...
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Craniopagus

Craniopagus twins are conjoined twins that are fused at any part of the skull, except the face, foramen magnum, skull base and the vertebral column. The fused structures are most often the cranium, meninges, and dural venous sinuses. Brains tend to be separate; however may be connected by a bri...
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Craniorachischisis

Craniorachischisis is a rare birth defect and the most severe of the neural tube defects. It refers to the presence of both anencephaly and spina bifida. Epidemiology In one study the prevalence of craniorachischisis was 0.51 per 10,000 live births in a Texas-Mexico border population 1. Clini...
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Craniosynostosis

Craniosynostosis refers to premature closure of the cranial sutures. The skull shape then undergoes characteristic changes depending on which suture(s) close early. Epidemiology There is a 3:1 male predominance. Pathology Primary forms are either sporadic or familial. Secondary craniosynosto...
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Crescent in a doughnut sign

The crescent in a doughnut sign refers to the transverse ultrasound appearance of intestinal intussusception, and is a variation of the target sign (which is also known as the doughnut sign) The doughnut is formed by concentric alternating echogenic and hypoechogenic bands. The echogenic bands ...
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Crohn disease

Crohn disease, also known as regional enteritis, is an idiopathic inflammatory bowel disease characterised by widespread discontinuous gastrointestinal tract inflammation. The terminal ileum and proximal colon are most often affected. Extraintestinal disease is common. Epidemiology The diagnos...
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Croup

Croup, also called acute laryngotracheobronchitis is due to viral infection of the upper airway by parainfluenza virus or respiratory syncytial virus (RSV). On imaging, although not required for the diagnosis, it classically presents with a narrowing of the subglottic airway and ballooning of t...
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Crouzon syndrome

Crouzon syndrome is rare disorder characterised by premature craniosynostoses.  Pathology Features include: abnormal calvarial shape: in severe case can give a "cloverleaf skull"  shallow orbits with exopthalmos mid facial hypoplasia bifid uvula Genetics It carries an autosomal dominant ...
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Currarino-Silverman syndrome

Currarino-Silverman syndrome, also known as pectus carinatum type 2 deformity, is a rare disorder in which the patient has a high carinate chest deformity due to a premature fusion of the manubriosternal joint and sternal ossification centres. Congenital heart diseases have been described in mor...
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Currarino syndrome

The Currarino syndrome is a complex condition variably comprised of characteristic congenital anomalies of the sacrum, anorectum and presacral soft tissues. It is also known as the Currarino triad or ASP triad, however, not all three features are always present 6.  anorectal malformation or con...
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Cyanotic congenital heart disease

A number of entities can present as cyanotic congenital heart disease. These can be divided into those with increased or decreased pulmonary vascularity (pulmonary plethora): increased pulmonary vascularity total anomalous pulmonary venous return (TAPVR) (types I and II) transposition of the ...
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Cyclopia

Cyclopia refers to a rare fetal malformation characterised by a single palpebral fissure and a single midline orbit. This orbit may contain either a single globe or two separate globe. Epidemiology The condition is thought to affect approximately 1 in 40,000 to 95,000 births (inclusive of stil...
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Cystic fibrosis (pulmonary manifestations)

Pulmonary manifestations of cystic fibrosis are some of the best known in cystic fibrosis (CF). This is partly because the lungs are often severely affected and the cause of significant morbidity and mortality.  For general discussion of cystic fibrosis, and a discussion of its other manifestat...
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Cystic hygroma

Cystic hygroma, also known as cystic or nuchal lymphangioma, refers to the cystic variety of congenital lymphangioma which, most commonly, occur in the cervicofacial regions, particularly at the posterior cervical triangle.  Epidemiology  They usually occur in the fetal/infantile and paediatri...
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Cystic lung lesions (paediatric)

Cystic lesions in paediatric patients are usually congenital lesions and, as such, can be seen prenatally and following delivery. Causes Congenital These congenital lesions are predominantly covered by the overarching diagnosis of bronchopulmonary foregut malformation. This is a heterogeneous...
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Cystic mass adjacent to the angle of mandible (differential)

The differential diagnosis of a cystic mass adjacent to the angle of mandible includes: 2nd branchial cleft cyst lymphatic malformation (lymphangioma) cystic lymphadenopathy from tuberculosis from metastatic squamous cell carcinoma  from metastatic papillary thyroid cancer See also cys...
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Dandy-Walker continuum

Dandy-Walker continuum, also referred as Dandy-Walker spectrum or Dandy-Walker complex, corresponds to a group of disorders believed to represent a continuum spectrum of posterior fossa malformations, characterised by inferior vermian hypoplasia and incomplete formation of the fourth ventricle w...
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Delayed bone age

A generalised retardation in skeletal maturation has different causative or aetiological factors, these can be classified as follows: chronic ill health congenital heart disease (especially cyanotic) chronic renal disease inflammatory bowel disease malnutrition: failure to thrive (FTT) ric...
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Delta resistive index

The delta resistive index (delta RI or Δ RI) is a measurement that can be made when performing Doppler ultrasound. In preterm babies who have hydrocephalus secondary to intraventricular haemorrhage, the delta RI can be used to determine whether decompression of the ventricular system with a...
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Dense metaphyseal bands (differential)

The differential diagnosis of dense metaphyseal bands is wide. Differential diagnosis Common chronic anaemia, e.g. sickle cell disease, thalassemia chemotherapy, e.g. methotrexate growth acceleration lines following growth arrest due to systemic illness or stress in infancy or childhood, e....
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Desmoplastic infantile astrocytoma and ganglioglioma

Desmoplastic infantile astrocytoma and gangliogliomas are a rare intracranial tumour, which despite their aggressive appearances tend to have a good prognosis and are considered WHO grade I tumours.  Terminology Previously considered separate entities, desmoplastic infantile astrocytoma and de...
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Developmental dysplasia of the hip

Developmental dysplasia of the hip (DDH) (or in older texts congenital dislocation of the hip (CDH)) denotes aberrant development of the hip joint and results from an abnormal relationship of the femoral head to the acetabulum. There is a clear female predominance, and it usually occurs from lig...
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Diabetic embryopathy

Diabetic embryopathy refers to a spectrum of fetal anomalies that precipitate when the mother has background type I diabetes. The fetus may develop many of the fetal conditions associated with maternal diabetes although strictly speaking the the anomalies should only include those that start in ...
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Diastematomyelia

Diastematomyelia, also known as a split cord malformation, refers to a type of spinal dysraphism (spina bifida occulta) when there is a longitudinal split in the spinal cord.  Terminology Although traditionally it has been distinguished from diplomyelia (in which the cord is duplicated rather ...
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Diffuse brainstem gliomas

Diffuse brainstem gliomas, also known as diffuse intrinsic brainstem glioma (DIBG), is a term used to describe infiltrating astrocytomas, no longer recognised as a distinct entity in the 2016 update to the WHO classification of CNS tumours. It encompassed a variety of tumours, ranging from WHO g...
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Disorders of gender development

Disorder of gender development refers to the spectrum of rare congenital conditions in where there is an atypical development of chromosomal, gonadal, or anatomic sex. They can be classified broadly into four categories on the basis of gonadal histologic features which include: female pseudohe...
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Dorsal brainstem syndrome

Dorsal brainstem syndrome is a rare subset of hypoxic ischaemic encephalopathy in neonates limited to the isolated involvement of the brainstem with sparing of the supratentorial brain. Due to its subtle imaging features it is often undiagnosed. Clinical presentation Injuries involving the teg...
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Double bubble sign (duodenum)

The double bubble sign is seen in infants and represents dilatation of the proximal duodenum and stomach. It is seen in both radiographs and ultrasound, and can be identified antenatally 2. Pathology Causes include 1,2: congenital obstruction duodenal web duodenal atresia duodenal stenosis...
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Double density sign (osteoid osteoma)

The double density sign, also sometimes clumsily referred to as the hotter spot within hot area sign, is a bone scan sign of an osteoid osteoma. It refers to a central focus of intense uptake (the nidus) within a surrounding lower, but nonetheless increased uptake, rim. See also double densit...
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Double outlet left ventricle

Double outlet left ventricle (DOLV) is an extremely rare congenital cardiac anomaly where both the aorta and pulmonary trunk arise from the anatomical left ventricle. It is usually classified as a conotruncal anomaly and is often associated with a ventricular septal defect with normal continuity...
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Double outlet right ventricle

Double outlet right ventricle (DORV) is a congenital cardiac anomaly where both the aorta and pulmonary trunk arise from the morphologically right ventricle. It is reported to account for ~2% of congenital cardiac defects 1. It is usually classed as a conotruncal anomaly. There is almost always ...
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Double track sign (pyloric stenosis)

The double track sign is a radiological sign described in pyloric stenosis on various imaging modalities.  Barium study Double streaks of barium passing through the narrow pylorus 1. Ultrasound On fluid aided real-time examination, the pyloric fluid is compressed into smaller tracks as it is...
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Drash syndrome

Drash syndrome, also known as the Denys-Drash syndrome, is associated with an abnormal WT1 gene (Wilms tumour gene) and consists of: Wilms tumour male pseudohermaphroditism progressive glomerulonephritis
Article

Dravet syndrome

Dravet syndrome, previously known as severe myoclonic epilepsy of infancy (SMEI), is a rare form of epilepsy usually presenting in the first 1-2 years of life. Clinical presentation The typical presentation occurs during the first six months to one year of life as tonic-clonic seizures in a fe...
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Duane radial ray syndrome

Duane radial ray syndrome (DRRS) (also known as the Okihiro syndrome) is a rare an autosomal dominant condition characterized by radial ray defects and a Duane anomaly (a form of strabismus with horizontal gaze palsy).
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Duane syndrome

Duane syndrome, also known as Duane retraction syndrome, is a rare congenital disease characterised by non-progressive strabismus. It is caused by a variable degree of abnormal development of one or both 6th cranial nerves (CN VI). Epidemiology It presents during childhood and it accounts for ...
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Dubowitz syndrome

Dubowitz syndrome (DS) is a rare genetic disorder with a wide clinical spectrum which includes: intrauterine growth restriction (IUGR) postnatal growth retardation  microcephaly moderate mental retardation  characteristic facial anomalies  telecanthus epicanthic folds bleph...
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Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a dystrophinopathy and the most common muscular dystrophy. Epidemiology DMD has an incidence of 1 in 3500 to 5000 males 1,2. The condition is extremely rare in females due to its inheritance pattern, as discussed below 1. Clinical presentation The charact...
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Ductus arteriosus

The ductus arteriosum (or arteriosus) is the thick short conduit for blood to bypass the non-ventilated lungs in the fetus. It is located between and connects the proximal left pulmonary artery and the undersurface of the aortic arch distal to the origin of the last branch of the arch, at the ao...
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Duodenal atresia

Duodenal atresia results from a congenital malformation of the duodenum and requires prompt correction in the neonatal period. It is considered to be one of the commonest causes of a fetal bowel obstruction. Epidemiology The prevalence of duodenal atresia is ~1 in 5,000-10,000 newborns, and th...
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Duodenal web

A duodenal web, diaphragm or intraluminal diverticulum refers to a complete or incomplete obstruction at the duodenum due to a membranous web or intraluminal diverticulum. There is usually a small aperture at the centre differentiating this from a duodenal atresia.  Although they are frequently...
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Dysgenesis of the corpus callosum

Dysgenesis of the corpus callosum may be complete (agenesis) or partial and represents an in utero developmental anomaly. It can be divided into: primary agenesis: the corpus callosum never forms secondary dysgenesis: the corpus callosum forms normally and is subsequently destroyed Epidemiolo...
Article

Dysplasia epiphysealis hemimelica

Dysplasia epiphysealis hemimelica (DEH), also known as Trevor disease, is an extremely rare, non-hereditary disease that is characterised by osteochondromas arising from the epiphyses. Epidemiology The incidence is estimated at ~1:1,000,000 3. There is a recognised male predilection (M:F = 3:1...
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Ebstein anomaly

Ebstein anomaly is an uncommon congenital cardiac anomaly, characterised by a variable developmental anomaly of the tricuspid valve. Epidemiology The anomaly accounts for only ~0.5% of congenital cardiac defects 6-7, although it is the most common cause of congenital tricuspid regurgitation. T...
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Echogenic fetal bowel

Echogenic fetal bowel is an observation in antenatal ultrasound imaging, in which fetal bowel appears to be brighter than it is supposed to be. It is a soft marker for trisomy 21 and has several other associations. When observed, it needs to be interpreted in the context of other associated abno...
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Ectodermal dysplasia

Ectodermal dysplasia (ED) refers to a heterogeneous group of genetic disorders that cause abnormal ectoderm development. The effect is a non-progressive defect in the development of two or more tissues derived from embryonic ectoderm.  Epidemiology ED is rare with an estimated prevalence of 1:...
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Ectopia cordis

Ectopia cordis is an extremely rare congenital malformation where the heart is located partially or totally outside the thoracic cavity. The four main ectopic positions are: adjacent to the thorax: ~60% abdominal: 15-30% thoracoabdominal: 7-18%  cervical: ~3% Epidemiology The estimated pre...
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Ectopic ureter

An ectopic ureter is a congenital renal anomaly that occurs as a result of abnormal caudal migration of the ureteral bud during its insertion to the urinary bladder. Normally the ureter drains via the internal ureteral orifice at the trigone of the urinary bladder.  In females, the most common ...
Article

Ectrodactyly-ectrodermal dysplasia-clefting syndrome

Ectrodactyly-ectrodermal dysplasia-clefting (EEC) syndrome is a rare genetic syndrome that has high clinical variability but typically comprises of the triad of  ectrodactyly  +/- syndactyly 1 +/- polydactyly 5 ectrodermal dysplasia facial clefts: cleft lip and/or palate Pathology Genetics ...
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Edwards syndrome

Edwards syndrome, also known as trisomy 18, along with Down syndrome (trisomy 21) and Patau syndrome (trisomy 13), make up the only three trisomies to be compatible with extrauterine life in non-mosaic forms, albeit in the case of Edward syndrome only for a week or so.  Epidemiology After Down...
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Egg-on-a-string sign (heart)

Egg-on-a-string sign, also referred to as egg on its side, refers to the cardiomediastinal silhouette seen in transposition of the great arteries (TGA). The heart appears globular due to an abnormal convexity of the right atrial border and left atrial enlargement and therefore appears like an ...
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Eisenmenger syndrome

Eisenmenger syndrome is a complication of an uncorrected high-flow, high-pressure congenital heart anomaly leading to chronic pulmonary arterial hypertension and shunt reversal. Epidemiology In general, the shunts that lead to Eisenmenger syndrome share are high pressure and high flow 3. As su...
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Elbow ossification

Elbow ossification occurs at the six elbow ossification centers in a reproducible order. Being familiar with the order of ossification of the elbow is important in not mistaking an epicodylar fracture for a normal ossification center.  Appearance Order The order of appearances of the elbow os...
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Elbow ossification (mnemonic)

Mnemonics for elbow ossification include CRITOE and CRITOL. These are essentially the same, apart from the terminal letter which represents the External or Lateral epicondyle. Mnemonics CRITOE C - capitellum R - radial head I - internal epicondyle T - trochlea O - olecranon E - external ...
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Embryonal rhabdomyosarcoma

The embryonal subtype of rhabdomyosarcoma is the most common variety of rhabdomyosarcoma, accounting for 50-70% of cases 1-2. It is typically seen in children below the age of 15. Pathology Embryonal rhabdomyosarcomas are further divided into three sub types 1: spindle cell rhabdomyosarcoma ...
Article

Embryonal tumours with multilayered rosettes (ETMR)

Embryonal tumours with multilayered rosettes (ETMR) are rare small round blue cell tumour of the central nervous system and are one of the most aggressive brain tumours usually encountered in children.  Terminology Previously embryonal tumours with multilayered rosettes (ETMR) were known as em...
Article

Encephalocele

Encephalocele, also known as meningoencephalocele, is a form of neural tube defect and a type of cephalocele where brain tissue and overlying meninges herniate out through a defect in the cranium.  Terminology It should be distinguished from cranial meningocele in which the lesion contains onl...
Article

Enchondromatosis

Enchondromatosis or Ollier disease is a non-hereditary, sporadic, skeletal disorder characterised by multiple enchondromas principally located in the metaphyseal regions. Terminology Some authors make a distinction between Ollier disease and enchondromatosis on the basis of distribution. In th...
Article

Endocardial fibroelastosis

Endocardial fibroelastosis (EFE) is a rare cardiac condition which is classically described in the paediatric population (typically first two years). It is one of the causes for infants to present with unexplained heart failure.  Pathology The condition results from increasing amounts of fibro...
Article

Endochondral ossification

Endochondral ossification describes the process of ossification from mesenchymal cells (stem cells) with a cartilaginous template and is involved in the healing process of fractures. Bone formation occurs at centers of ossification (or ossification centres) which are either primary or secondary...
Article

Enterovirus 71

Enterovirus 71 is one of the viruses that causes hand-foot-and-mouth disease in children. It is an enterovirus, one of the picornaviruses. Infection with enterovirus 71 predominantly results in a vesicular rash of the hands and feet that follows a prodrome of symptoms including fever, vomiting ...
Article

Enterovirus rhomboencephalitis

Enterovirus rhomboencephalitis is the most common neurological complication of enterovirus infection 1. Clinical presentation Enterovirus rhomboencephalitis causes acute and severe neurologic disorders such as ataxia, nystagmus, oculomotor palsies, or bulbar palsy. In some cases, neurologic af...
Article

Ependymoma RELA fusion-positive

Ependymoma RELA fusion-positive is a recently accepted variant of ependymoma, only recognised in the 2016 update to the WHO classification of CNS tumours. They are the most common type of supratentorial ependymoma in children, and not found in the posterior fossa or spinal cord.  Epidemiology ...
Article

Epicondyle fracture

Epicondyle fractures are common injuries in children. They represent 10% of all elbow fractures in children and usually occur in boys after a fall on an outstretched arm. Medial epicondyle fractures comprise most of these injuries. They can usually be treated with splinting and early physiother...
Article

Epiglottitis

Epiglottitis is a life-threatening condition caused by inflammation of the epiglottis and aryepiglottic folds 1,  which can lead to acute airway obstruction. Hence, treatment should be urgent and performed by appropriately trained individuals, e.g. instrumentation of the trachea should be perfor...
Article

Epispadias

Epispadias is a rare congenital anomaly that is almost always associated with bladder exstrophy.  Epidemiology It occurs in 1 in 30,000 births, with a male: female ratio of 3:1. Clinical presentation The roof of the urethra is absent and the urethra opens anywhere between the base and the gl...
Article

Erb palsy

Erb palsy, also known as brachial plexus birth palsy, is a form of obstetric brachial plexus injury as a result of complications during delivery.  Clinical presentation The most common cause is due to excessive lateral traction or stretching of the fetal head and neck in opposite directions du...
Article

Evaluation of endotracheal tube position

Endotracheal tubes (ETT) are wide-bore plastic tubes that are inserted into the trachea to allow artificial ventilation. Tubes come in a variety of sizes and have a balloon at the tip to ensure that gastric contents are not aspirated into the lungs. Adult tubes are usually approximately 1 cm in ...
Article

Ewing sarcoma

Ewing sarcoma is the second most common highly malignant primary bone tumour of childhood after osteosarcoma, typically arising from medullary cavity with invasion of Haversian system. They usually present as moth-eaten destructive permeative lucent lesions in the shaft of long bones with large ...
Article

Ewing sarcoma family of tumours

Ewing sarcoma family of tumours (ESFT) are a group of small round blue cell tumours that are closely histogenetically related, all demonstrating non-random t(11;22)(q24;q12) chromosome rearrangement resulting in the formation of the EWS-ETS fusion gene 1-3. They include: Ewing sarcoma of bone ...
Article

Extracorporeal membrane oxygenation

Extracorporeal membrane oxygenation (ECMO) is used as a modified pulmonary or cardiopulmonary bypass technique in those with severe cardiac and/or respiratory failure refractory to conventional ventilatory support and medical intervention 1,3. There are two access paths for extracorporeal life s...
Article

Exudative retinitis

Exudative retinitis, also known as retinal telangiectasis or Coats disease, is a rare congenital disease affecting the eyes and is a cause of leukocoria. Epidemiology It occurs predominantly in young males, with the onset of symptoms generally appearing in the first decade of life with a peak ...
Article

Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is a form of muscular dystrophy characterised by extremely variable degrees of facial, scapular and lower limb muscle involvement. Epidemiology It is considered one of the more common hereditary muscular disorders with a prevalence of ~1 in 8,000. ...
Article

Fatco syndrome

Fatco syndrome is a syndrome consisting of fibular aplasia tibial campomelia and oligosyndactyly. It is a syndrome of unknown genetic basis and inheritance with variable expressivity and penetrance. Differential diagnosis Fuhrmann syndrome and Al-Awadi syndrome are said to be similar to FA...
Article

Faulty fetal packing

Faulty fetal packing, also known as congenital vault depression, is a congenital concave depression of the skull in a newborn. Epidemiology Occurs in 1 in 10,000 births 1.  Pathology This appearance is due to external compression on the skull from 1,2: fetal limb or twin uterine fibroid b...
Article

Febrile infection-related epilepsy syndrome

Febrile infection-related epilepsy syndrome (FIRES) is a severe postinfectious neurological disorder that presents with status epilepticus in a previously normal child (or less commonly adult) after a febrile illness. Terminology FIRES has received several names in the literature: acute encep...

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