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.

825 results found
Article

Non-ossifying fibroma

Non-ossifying fibromas (NOF) are the most common of non-neoplastic fibrous bone lesions and are a larger version (>3 cm) of a fibrous cortical defect; both are encompassed by the term fibroxanthoma or metaphyseal fibrous defect. Epidemiology NOFs are very common in children and adolescents, an...
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Langerhans cell histiocytosis (skeletal manifestations)

The skeleton is the most commonly involved organ system in Langerhans cell histiocytosis (LCH) and is by far the most common location for single-lesion LCH, often referred to as eosinophilic granuloma (EG) (the terms are used interchangeably in this article). For a general discussion of this dis...
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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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Multilocular cystic renal tumours

Multilocular cystic renal tumours (MCRT) are rare benign renal neoplasms occurring in a bimodal age distribution, involving young children and adults in the 4th and 5th decades. For logical reasons, this article will discuss together the two ends of the spectrum of this disease, cystic partiall...
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Multicystic encephalomalacia

Multicystic encephalomalacia (MCE) corresponds to a variant of encephalomalacia commonly seen in neonates in which numerous loculated lacy pseudocysts within the white matter and cortex are present as a result of an extensive brain insult.  It is a common feature observed in the neonatal hypoxi...
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Hereditary multiple exostoses

Hereditary multiple exostoses, also known as diaphyseal aclasis, is an autosomal dominant condition, characterised by the development of multiple osteochondromas. Epidemiology Hereditary multiple exostoses demonstrate an autosomal dominant inheritance pattern, with incomplete penetrance in fem...
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Hydrocoele of the canal of Nuck

Hydrocoele of the canal of Nuck is a rare condition in female children caused by a failure of complete obliteration of the canal of Nuck 1. The canal of Nuck is an abnormal patent pouch of peritoneum extending anterior to the round ligament of the uterus into the labia majora 2. Incomplete oblit...
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Hirschsprung disease

Hirschsprung disease is the most common cause of neonatal colonic obstruction (15-20%). It is commonly characterised by a short segment of colonic aganglionosis affecting term neonates, especially boys.  Epidemiology Hirschsprung disease affects approximately 1:5000-8000 live births. In short ...
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Hepatoblastoma

Hepatoblastoma is the most common primary malignant liver tumour in children under four years of age who usually present with painless abdominal mass and raised AFP. It is tumour of embryonic origin. Epidemiology Most cases are seen during the first 18 months of life and diagnosis in adulthood...
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Hypospadias

Hypospadias refers to a type of congenital malformation affecting the male external genitalia. Epidemiology The estimated prevalence is ~2 (range 0.2-4.1) per 1000 live births. Pathology The urethral meatus is abnormally positioned proximally and ventrally to its normal position. It is thou...
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Hepatic mesenchymal hamartoma

Hepatic mesenchymal hamartoma is an uncommon benign hepatic tumour. Some authors even consider this to be a developmental anomaly rather than a cystic neoplasm 9,12. Epidemiology It typically occurs in children and neonates, with most cases presenting within the first two years of life 3. Ther...
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Hemimegalencephaly

Hemimegalencephaly is a rare congenital disorder of cortical formation with hamartomatous overgrowth all or a part of a cerebral hemisphere. This results from either increased proliferation or decreased apoptosis (or both) of developing neurons 2. Epidemiology Hemimegalencephaly is a cryptogen...
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Metaphyseal corner fracture

Metaphyseal corner fractures, also known as classical metaphyseal lesions (CML) or bucket handle fractures, are observed in young children, less than 2 years old. It is considered pathognomic for non-accidental injury (NAI).  Epidemiology This injury is not only the fracture most specific for ...
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Growth arrest lines

Growth arrest lines, also known as growth resumption lines, Harris lines or Park lines, are alternating transverse rings of sclerosis at the metaphysis of a long bone. Pathology The radiographic finding occurs from alternating cycles of osseous growth arrest and growth resumption. This appears...
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Granulocytic sarcoma

Granulocytic sarcoma (also called myeloid sarcoma and chloroma) is a rare neoplasm comprised of myeloid precursor cells. Epidemiology It is typically seen is in children with ~60% occurring in individuals less than 15 years of age. There is no recognised gender predilection. Granulocytic sarc...
Article

Nuchal fold thickness

Nuchal fold thickness is a parameter that is measured on an obstetric second-trimester scan (at ~18-22 weeks) and should not be confused with nuchal translucency (which is measured in the first trimester).  Pathology The proposed aetiology of increased nuchal thickness is the result of hydrops...
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Metachromatic leukodystrophy

Metachromatic leukodystrophy (MLD) is the most common hereditary (autosomal recessive) leukodystrophy and is one of the lysosomal storage disorders. It has characteristic imaging features including peri-atrial and to a lesser extent frontal horns leukodystrophy as well as periventricular periven...
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Gaucher disease

Gaucher disease (GD) is the most common lysosomal storage disease in humans. It is an autosomal recessive, multisystem disease arising from a deficiency of glucocerebrosidase or beta-glucosidase activity, resulting in accumulation of a glycolipid (glucocerebroside) within the lysosomes of macrop...
Article

Gastro-oesophageal reflux disease

Gastro-oesophageal reflux disease (GORD) is a spectrum of disease that occurs when gastric acid refluxes from the stomach into the lower end of the oesophagus across the lower oesophageal sphincter (LOS). Clinical presentation Common clinical features in adults include epigastric and retroster...
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Germinal matrix haemorrhage

Germinal matrix haemorrhages, also know as periventricular-intraventricular haemorrhages (PVIH), correspond to the most common type of intracranial haemorrhage in neonates and are related to a perinatal stress affecting the highly vascularised subependymal germinal matrix. The majority of cases ...
Article

Gastroschisis

Gastroschisis refers to extra-abdominal herniation (evisceration) of fetal or neonatal bowel loops (and occasionally portions or the stomach and or liver) into the amniotic cavity through a para-umbilical abdominal wall defect.   Epidemiology The estimated incidence is at around 1-6 per 10,000...
Article

Ganglioneuroma

Ganglioneuromas are fully differentiated neuronal tumours that do not contain immature elements and potentially occur anywhere along the peripheral autonomic ganglion sites.  On imaging, usually, they present as well-defined solid masses and can be quite large at presentation. Generally, they a...
Article

Madelung deformity

Madelung deformity is due to premature closure or defective development of the ulnar third of the distal epiphysis of the radius.  This deformity results in a radial shaft that is bowed with increased interosseous space and dorsal subluxation of the distal radioulnar joint. It can be bilateral ...
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Macrodystrophia lipomatosa

Macrodystrophia lipomatosa is a rare form of localised gigantism, and many terms have been used interchangeably, with resulting confusion. They include macrodactyly, megalodactyly, digital gigantism, macromelia, partial acromegaly, macrosomia, and limited gigantism 3. It is worth noting that  m...
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Meconium peritonitis

Meconium peritonitis refers to a sterile chemical peritonitis due to intra-uterine bowel perforation and spillage of fetal meconium into the fetal peritoneal cavity. It is a common cause of peritoneal calcification.  Epidemiology The estimated prevalence is at ~1 in 35,000. Pathology The aet...
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Meconium ileus

Meconium ileus refers to a neonatal bowel obstruction of the distal ileum due to abnormally thick and impacted meconium. Unlike in the meconium plug syndrome, the meconium is abnormal in consistency. Epidemiology Meconium ileus is more common in white populations and affects both sexes almost ...
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Meconium aspiration

Meconium aspiration occurs secondary to intrapartum or intrauterine aspiration of meconium, usually in the setting of fetal distress, and usually in term or post-term infants. Pathology Aspirated meconium can cause small airways obstruction and a chemical pneumonitis. Radiographic features P...
Article

Maple syrup urine disease

Maple syrup urine disease (MSUD) is a very rare metabolic disorder. It is an inborn error of amino acid metabolism, which classically affects the brain tissue resulting in impairment or death if untreated. Clinical presentation Manifests itself in the first few days of life (12-24 hours) with ...
Article

Major aortopulmonary collateral arteries

Major aortopulmonary collateral arteries (MAPCAs) are persistent tortuous fetal arteries that arise from the descending aorta and supply blood to pulmonary arteries in the lungs usually at the posterior aspect of hilum. Pathology Embryologically, the intersegmental arteries regress with the no...
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Fibular hemimelia

Fibular hemimelia is a congenital lower limb anomaly characterised by partial or complete absence of the fibula and includes a spectrum ranging from mild fibular hypoplasia to complete fibular aplasia 1. Epidemiology Although rare in occurrence, it is the most common congenital absence of long...
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Fibrous cortical defect

Fibrous cortical defects (FCD) are benign bony lesions and are a type of fibroxanthoma, histologically identical to the larger non-ossifying fibroma (NOF). Epidemiology Fibrous cortical defects typically occur in children (usually 2-15 years), and indeed are one of the most common benign bony ...
Article

Fibrosing colonopathy

Fibrosing colonopathy a condition characterised by progressive submucosal fibrosis, particularly of the proximal colon. It is associated with high dose lipase supplementation used to treat exocrine insufficiency of the pancreas, such as in treatment for cystic fibrosis. Epidemiology It is more...
Article

Fibromatosis colli

Fibromatosis colli is a rare form of infantile fibromatosis that occurs within the sternocleidomastoid muscle (SCM). Epidemiology There may be a slight male predilection. It typically presents a few weeks after birth. Clinical presentation Presentation is usually with torticollis and is most...
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...
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

Pectus carinatum

Pectus carinatum, otherwise known as a pigeon chest, refers to a chest wall deformity in which the sternum protrudes anteriorly. It is less common than pectus excavatum. Clinical presentation Patients may present with dyspnoea and exercise intolerance. Pathology Associations scoliosis (comm...
Article

Tracheobronchial papillomatosis

Tracheobronchial papillomatosis refers to the occurrence of multiple squamous cell papillomas involving trachea and bronchi. It is an unusual manifestation of recurrent respiratory papillomatosis (RRP), itself a rare condition where HPV-associated papilloma form along the aerodigestive tract8. ...
Article

Tibia vara

Tibia vara (also known as genu varus and bow-leggedness) is a varus deformity with outward bowing at the knee and medial angulation (inward) of the lower leg in relation to the thigh's coronal axis. The differential of bow-legging in children is long, with common causes including Blount disease...
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Transient tachypnoea of the newborn

Transient tachypnoea of the newborn (TTN), also known as retained fetal fluid or wet lung disease, presents in the neonate as tachypnoea for the first few hours of life, lasting up to one day. The tachypnoea resolves by two days.  Pathology amniotic fluid is expressed from the lungs during vag...
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Transient synovitis of the hip

Transient synovitis of the hip refers to a self-limiting acute inflammatory condition affecting the synovial lining of the hip. It is considered one of the most common causes of hip pain and limping in young children. Over 90% of hip joint effusions in children tend to be due to transient synovi...
Article

Total anomalous pulmonary venous return

Total anomalous pulmonary venous return (TAPVR) is a cyanotic congenital heart anomaly with an abnormal drainage anatomy of the entire pulmonary venous system. This contrasts with partial anomalous pulmonary venous return (PAPVR) where only part of the pulmonary venous anatomy is abnormal. In T...
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Thymic hyperplasia

Thymic hyperplasia is a disorder whereby there is hyperplasia of the thymus gland.  Pathology Thymus hyperplasia can be subdivided into two forms:  true thymic hyperplasia lymphoid hyperplasia Both true thymic hyperplasia and lymphoid hyperplasia manifest as diffuse symmetric enlargement of...
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Thalassaemia

Thalassaemia is an autosomal recessive haemoglobinopathy that originated in the Mediterranean region. The genetic defect causes a reduction in the rate of globin chain synthesis which causes the formation of abnormal haemoglobin molecules. The resultant microcytic anaemia is the characteristic p...
Article

Tethered cord

Tethered spinal cord syndrome, also known as an occult spinal dysraphism sequence, is a neurological disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. Clinical presentation The condition is closely linked to spina bifida, and as such pre...
Article

Terminal myelocystocele

Terminal myelocystoceles are an uncommon form of spinal dysraphism representing marked dilatation of the central canal of the spinal cord, herniating posteriorly through a dorsal spinal defect. The result is a skin-covered mass in the lower lumbar region, consisting of an ependyma-lined sac.  E...
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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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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

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

Truncus arteriosus

Truncus arteriosus is a cyanotic congenital heart anomaly in which a single trunk supplies both the pulmonary and systemic circulation, instead of a separate aorta and a pulmonary trunk. It is usually classified as a conotruncal anomaly. It accounts for up to 2% of congenital cardiac anomalies ...
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Transposition of the great arteries

Transposition of the great arteries (TGA) is the most common cyanotic congenital cardiac anomaly with cyanosis in the first 24 hours of life. It accounts for up to 7% of all congenital cardiac anomalies 1  and can be assessed with echocardiography, gated cardiac CT, or cardiac MRI. Epidemiology...
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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

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

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...
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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

Type II collagenopathy

Type II collagenopathies are a group of conditions collectively characterised by abnormalities in synthesis of collagen type II. This usually occurs due to a mutation in the COL2A1 gene. Entities that fall under this group include: achondrogenesis type II platyspondylic lethal skeletal dyspla...
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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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Kawasaki disease

Kawasaki disease is a small to medium vessel vasculitis predominantly affecting young children. It can affect any body organ but there is a predilection for the coronary vessels. Pathology An autoimmune aetiology has been postulated. It is generally self-limiting but acute fatalities are thoug...
Article

Kirner deformity

Kirner deformity is characterised by a curvature of the distal phalynx of the 5th digit in both a palmar and radial direction. Epidemiology The deformity typically presents in late childhood to early adolescence, although a mild deformity may be present at birth. Both sexes are affected, altho...
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Kniest dysplasia

Kniest dysplasia is rare type of short limbed skeletal dysplasia. Pathology Genetics It is thought to carry an autosomal dominant inheritance. Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a prote...
Article

Köhler disease

Köhler disease is an eponymous term referring to childhood-onset osteonecrosis of the navicular bone in the foot. Mueller Weiss syndrome is the adult counterpart of navicular bone osteonecrosis 4,5 . Epidemiology It typically presents in the paediatric population (4-6 years of age) and there i...
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Krabbe disease

Krabbe disease, also known as globoid cell leukodystrophy, is an autosomal recessive leukodystrophy.  Clinical presentation Can vary and depends on the age of onset 5. hypertonia irritability delayed milestones loss of developed milestones fever myoclonus opisthotonus nystagmus Pathol...
Article

Hypovitaminosis C (scurvy)

Scurvy (also known as Barlow disease in infants) is a condition characterised by an increased bleeding tendency and impaired collagen synthesis resulting in osteoporosis and impaired wound healing. It is caused by a dietary lack of vitamin C (ascorbic acid). Epidemiology Scurvy in adults is ra...
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Hypovitaminosis A

Hypovitaminosis A results from inadequate intake of vitamin A, fat malabsorption, or liver disorders and produces a variety of epithelial alterations.   Epidemiology The World Health Organization currently estimates that 45-122 countries have a vitamin A deficiency of public health significanc...
Article

Hindfoot varus

Hindfoot varus describes a relatively varus position of the calcaneus which is adducted and rotated under the talus. This is best appreciated on a weightbearing DP foot radiograph as a relative reduction in the angle formed between the mid-talar and mid-calcaneal axes (the talocalcaneal angle). ...
Article

Hindfoot valgus

Hindfoot valgus refers to malalignment of the hindfoot in which the mid-calcaneal axis is deviated away from the midline of the body. On the DP view, this results in an increase in the angle between the mid-calcaneal axis and the mid-talar axis (talocalcaneal angle) 1.  Despite abduction of th...
Article

Heterotaxy syndrome

Heterotaxy syndrome or situs ambiguus (also commonly, but etymologically less correctly, spelled situs ambiguous) is a disturbance in the usual left and right distribution of the thoracic and abdominal organs which does not entirely correspond to the complete or partial mirror image. It occurs ...
Article

Haemophagocytic lymphohistiocytosis

Haemophagocytic lymphohistiocytosis (HLH), also known as macrophage activation syndrome, is a nonmalignant disorder of immune regulation characterised by overproduction of cytokines and diminished immune surveillance. It may affect multiple organs and is one of few entities which demonstrate his...
Article

Hand-foot-and-mouth disease

Hand-foot-and-mouth disease is a viral illness that manifests as vesicular eruptions on the hands and feet as well as painful ulcers of the oral mucosa. Symptoms usually resolve spontaneously in 7-10 days. In most cases, there is a prodrome of fever, vomiting, diarrhoea, anorexia, and malaise. ...
Article

Hindfoot equinus

Hindfoot equinus describes abnormal plantarflexion (calcaneotibial angle >90°)  of the foot that occurs in the hindfoot. It occurs in congenital talipes equinovarus and congenital vertical talus.
Article

Haemolytic uraemic syndrome

Haemolytic uraemic syndrome (HUS) is a multisystem thrombotic microangiopathic disease characterised by the triad of renal failure, haemolytic anaemia and thrombocytopenia. It is the most common cause of renal failure in infancy and childhood requiring dialysis.  There are two forms of this syn...
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Haematuria (paediatric)

Haematuria in a child is evaluated differently than in an adult in two main respects: there is a lower likelihood of a malignancy (renal or bladder) causing the haematuria preference is given to nonionizing radiation Pathology Haematuria can be considered in three main forms: "gross" haemat...
Article

Hemiconvulsion-hemiplegia epilepsy syndrome

Hemiconvulsion-hemiplegia epilepsy syndrome (HHE) is a clinical syndrome of infancy or early childhood that is associated with seizures, cerebral hemiatrophy and transient or permanent epilepsy. It refers to the characteristic holohemispheric global atrophy of one hemisphere, that is independen...
Article

Gage sign

Gage sign is a V-shaped lucent defect at the lateral portion of the epiphysis and/or adjacent metaphysis. It is pathognomonic for Legg-Calve-Perthes disease. It may occur early in the disease and is one of the five indicators of a worse prognosis, which are: Gage sign  calcification lateral t...
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) where known as e...
Article

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:...
Article

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...
Article

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 ...
Article

Lissencephaly-pachygyria spectrum

The lissencephaly-pachygyria spectrum is useful in describing the spectrum of diseases that cause relative smoothness of the brain surface and includes: agyria: no gyri pachygyria: broad gyri lissencephaly: smooth brain surface It is a basket term for a number of congenital cortical malforma...
Article

Intussusception

Intussusception occurs when one segment of bowel is pulled into itself or a neighbouring loop of bowel by peristalsis. It is also known as bowel telescoping into itself. It is an important cause of an acute abdomen in children and merits timely ultrasound examination and reduction to preclude s...
Article

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

Tetralogy of Fallot

Tetralogy of Fallot (TOF) is the second most common cyanotic congenital heart condition and has been classically characterised by the combination of ventricular septal defect (VSD), right ventricular outflow tract obstruction (RVOTO), overriding aorta, and a late right ventricular hypertrophy. ...
Article

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...
Article

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 ...
Article

Congenital portosystemic shunt

​Congenital portosystemic shunts are rare anatomical abnormalities linked to abnormal embryological venous development. They can be extrahepatic or intrahepatic. In either case, the underlying abnormality is shunting of blood from the portal venous system to the systemic venous system thus avoid...
Article

Congenital cataract

Congenital cataracts are a major cause of blindness with early detection the most important factor in reducing impact on future vision.  Epidemiology Incidence is ~3 per 100,000 in the United Kingdom 1. Will be higher in areas with increased rates of congenital infection 5. Risk factors low ...
Article

Cardiovascular shunts

Cardiovascular (cardiac) shunts are abnormal connections between the pulmonary and systemic circulations. Most commonly they are the result of congenital heart disease. Pathology Blood can either be shunted from the systemic circulation to pulmonary circulation (i.e. 'left-to-right shunt') or ...
Article

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 a combined posterior fossa cyst communicating with the fourth ventricle as wel...
Article

Ventricular septal defect

Ventricular septal defects (VSD) represent defects in the interventricular septum that allow a haemodynamic communication between the right and left ventricles. It typically results in a left-to-right shunt. Epidemiology They represent one of the most common congenital cardiac anomalies and ma...
Article

Wilms tumour

Wilms tumour, also known as nephroblastoma, is a malignant paediatric renal tumour. Epidemiology Wilms tumours are the most common paediatic renal mass, accounting for over 85% of cases 1,8 and accounts for 6% of all childhood cancers 2. It typically occurs in early childhood (1-11 years) with...
Article

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...
Article

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...
Article

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...
Article

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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