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.

878 results found
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Brain tumours in infancy

Common brain tumours in infancy (i.e. under one year of age) are quite different from those of brain tumours in adulthood. Most are located in the supratentorial region (~65%) and they carry a poor prognosis. The frequency of these tumours varies according to studies, but the most common brain ...
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Branchio-oto-renal dysplasia

Branchio-oto-renal (BOR) dysplasia is a rare syndromic disorder characterised by: otic malformations can involve the outer, middle, and inner ear associated with conductive, sensorineural, or mixed hearing impairment preauricular pits branchial fistulae and branchial cleft cysts renal malfo...
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Brodie abscess

Brodie abscess is an intraosseous abscess related to a focus of subacute pyogenic osteomyelitis. Unfortunately, there is no reliable way radiographically to exclude a focus of osteomyelitis. It has a protean radiographic appearance and can occur at any location and in a patient of any age. It mi...
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Bronchial atresia

Bronchial atresia is a developmental anomaly characterised by focal obliteration of the proximal segment of a bronchus associated with hyperinflation of the distal lung.  On imaging, it commonly presents as a proximal focal tubular shaped opacity radiating from the hilum associated with a dista...
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Bronchogenic cyst

Bronchogenic cysts are congenital malformations of the bronchial tree (a type of bronchopulmonary foregut malformation). They can present as a mediastinal mass that may enlarge and cause local compression. It is also considered the commonest of foregut duplication cysts. Epidemiology Bronchoge...
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Bronchopulmonary dysplasia

Bronchopulmonary dysplasia (BPD) refers to late pathological lung changes that develop several weeks later in infants on prolonged ventilation. Terminology BPD and chronic lung disease of prematurity (CLDP) have often been used interchangeably to describe the condition post-treatment of premat...
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Bronchopulmonary foregut malformation

Bronchopulmonary foregut malformation (BPFM) is a term that encompases: congenital pulmonary airways malformation (CPAM) pulmonary sequestration hybrid lesion foregut duplication cysts  bronchogenic cyst neurenteric cyst enteric cyst Embryology They result from anomalous budding of the ...
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Bucket handle fracture (disambiguation)

Bucket handle fracture may refer to: bucket handle fracture - non-accidental injury bucket handle fracture of the pelvis
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Burkitt lymphoma

Burkitt lymphoma (BL) is an aggressive B-cell lymphoma predominantly affecting children. Epidemiology Burkitt lymphoma is the most common (40%) type of non-Hodgkin lymphoma in childhood. Median age is eight years with a male predominance (M:F = 4:1) 1. It is less common in adults, accounting f...
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Butterfly vertebra

Butterfly vertebra is a type of vertebral anomaly that results from the failure of fusion of the lateral halves of the vertebral body because of persistent notochordal tissue between them. Pathology Associations an anterior spina bifida, with or without an anterior meningocele can be part of...
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Café au lait spots

Café au lait spots are a type of pigmented skin lesions which are classically described as being light brown in colour.   Conditions associated with them include: neurofibromatosis type 1 (NF1) Jaffe-Campanacci syndrome McCune-Albright syndrome: typically irregular which has been likened to ...
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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. A rare variant known as prenatal onset cortical hyperostosis is severe and fatal, though it is probably a separate entity ...
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Calvarial thinning

Calvarial thinning can result from many causes. They include: osteogenesis imperfecta hypophosphatasia achondrogenesis Menkes syndrome craniofacial syndromes 1 Apert syndrome Crouzon syndrome Saethre-Chotzen syndrome Pfeiffer syndrome See also focal calvarial thinning calvarial thick...
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Camptodactyly arthropathy coxa vara pericarditis syndrome

Camptodactyly arthropathy coxa vara pericarditis (CACP) syndrome is a rare condition principally characterised by congenital or early-onset camptodactyly and childhood-onset non-inflammatory arthropathy coxa vara deformity or other dysplasia associated with progressive hip disease  pericardit...
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Canal of Nuck

The canal of Nuck is an abnormal patent pouch of parietal peritoneum extending anteriorly from the round ligament of the uterus into the labia majora through the inguinal ring into the inguinal canal. Incomplete obliteration of this canal is known as a patent processus vaginalis and can result i...
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Canavan disease

Canavan disease, also known as spongiform degeneration of white matter (not to be confused with Creutzfeldt-Jakob Disease) or aspartoacylase deficiency, is a leukodystrophy clinically characterised by megalencephaly, severe mental and neurological deficits, and blindness.  Epidemiology Canavan...
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Capillary haemangioma of the orbit

Capillary haemangiomas of the orbit, also known as strawberry haemangiomas, on account of its colouring, or orbital infantile haemangiomas, are the most common orbital tumours of infancy, and unlike orbital cavernous haemangiomas, they are neoplasms rather than vascular malformations. Clinical ...
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Caput succedaneum

Caput succedaneum is a manifestation of birth trauma, and it consists of a subcutaneous serosanguineous fluid collection external to the Galeal aponeurosis in the newborn's scalp. The fluid collection is extra-periosteal. It may be imaged with ultrasound, CT, or MRI. Caput succedaneum results f...
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Cardiac rhabdomyoma

Cardiac rhabdomyomas are a type of benign myocardial tumour and are considered the most common fetal cardiac tumour. They have a strong association with tuberous sclerosis. Epidemiology Cardiac rhabdomyomas are often multiple and can represent up to 90% of cardiac tumours in the paediatric pop...
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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 ...
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Cases in radiology (video tutorials)

The cases featured in these video lectures are specifically selected to teach important concepts in radiology over a broad range of topics. The tutorials vary in difficulty from basic to advanced. For maximum learning, try the cases for yourself in Radiopaedia quiz mode first.  We love this ser...
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Caterpillar sign

The caterpillar sign is a radiological sign described in pyloric stenosis. It refers to the appearance of stomach on an upper gastrointestinal radiographic series or plain abdominal radiograph 1,2. On these imaging modalities in a patient with pyloric stenosis, the stomach appears distended, ai...
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Caudal regression syndrome

Caudal regression syndrome (CRS) represents a spectrum of structural defects of the caudal region. Malformations vary from isolated partial agenesis of the coccyx to lumbosacral agenesis. Epidemiology Caudal regression syndrome is rare, with an estimated incidence of 1:7500-100,000 7,10. The ...
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Caudothalamic groove

The caudothalamic groove is an important landmark when performing neonatal cranial ultrasound. Gross anatomy As the name suggests, it is located between the caudate nucleus and thalamus, and is a shallow groove projecting from the floor of the lateral ventricle. It is approximately at the leve...
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Cenani-Lenz syndactyly

Cenani-Lenz syndactyly (CLS) is a very syndrome primarily characterised by: syndactyly/oligodactly: syndactyly is often complete and gives a spoon hand type appearance radio-ulnar synostoses Pathology Genetics It carries an autosomal recessive inheritance. Etymology It was first described...
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Central nervous system germinoma

Intracranial germinomas, also known as dysgerminomas or extra-gonadal seminomas, are a type of germ cell tumour and are predominantly seen in paediatric populations. They tend to occur in the midline, either at the pineal region (majority) or along the floor of the third ventricle/suprasellar re...
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Cephalohaematoma

Cephalohaematomas are traumatic subperiosteal haematomas of the skull that are usually caused by birth injury. They are bound by the periosteum and, therefore, cannot cross sutures. Being bound by a suture line distinguishes them from subgaleal haematoma, which can cross sutures. Epidemiology ...
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Cephalopagus

Cephalopagus twins are a rare type of conjoined twins. They are fused from the vertex to the umbilicus. They share a common cranium with either one composite face or two faces on opposite sides of the conjoined head. The thoraces are fused with fusion of liver, heart and the upper gastrointesti...
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Cerebellar agenesis

Cerebellar agenesis is a rare congenital abnormality which can result from failure to develop normal cerebellar tissue or destruction of normally developed tissue. For a more general overview of cerebellar malformations, please refer to the article on classification systems for malformations of...
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Cerebral hypoventilation syndrome

Cerebral hypoventilation syndrome refers to a congenital condition characterised by hypoventilation during sleep with no other abnormalities of cardio-respiratory system. There is a decrease in the depth of breathing . It is also known as Congenital central hypoventilation syndrome (CCHS) or On...
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Cervix sign of pyloric stenosis

The cervix sign of pyloric stenosis describes indentation of the pylorus into the fluid-filled antrum, seen in pyloric stenosis. See also antral nipple sign target sign of pyloric stenosis shoulder sign of pyloric stenosis
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CHARGE syndrome

CHARGE syndrome is an acronym that classically describes a combination head and neck, cardiac, CNS and genitourinary disorders: C: coloboma H: heart defects (congenital heart disease) A: atresia (choanal) R: retardation (mental) G: genital hypoplasia E: ear abnormalities/deafness Clinical...
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Chiari I malformation

Chiari I malformation is the most common variant of the Chiari malformations, and it is characterised by a caudal descent of the cerebellar tonsil (and brainstem in its subtype, Chiari 1.5) through the foramen magnum. Symptoms are proportional to the degree of descent. MRI is the imaging modalit...
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Childhood malignancies

Unfortunately the paediatric population is susceptible to malignancies. The most common entities, in overall order of frequency, are 1-4: leukaemia/lymphoma: ~35% * acute lymphoblastic leukaemia: 23% Hodgkin disease: 5% acute myelogenous leukaemia: 4% central nervous system malignancies: ~2...
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CHILD syndrome

CHILD syndrome is an acronym for congenital hemidysplasia with ichthyosiform erythroderma and limb defects. It comprises of: Ch: congenital hemidysplasia I: ichthyosiform erythroderma develops at or shortly after birth unilateral erythema and scaling, with a distinct demarcation in the middl...
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Choanal atresia

Choanal atresia refers to a lack of formation of the choanal openings. It can be unilateral or bilateral. Epidemiology It frequently presents in neonates where it is one of the commonest causes of nasal obstruction in this age group. There is a recognised female predilection. The incidence is ...
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Chondroblastoma

Chondroblastomas, also referred as Codman tumours, are rare benign cartilaginous neoplasms that characteristically arise in the epiphysis or apophysis of a long bone in young patients. Despite being rare, they are one of the most frequently encountered benign epiphyseal neoplasms in skeletally i...
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Chondrodysplasia punctata

Chondrodysplasia punctata (CDP) is a collective name for a heterogenous group of skeletal dysplasias. Calcific stippling of cartilage and peri-articular soft tissues is often a common feature. Pathology Subtypes It can be broadly divided into rhizomelic and non-rhizomelic forms: rhizomelic c...
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Chondroectodermal dysplasia

Chondroectodermal dysplasia, also known as the Ellis-van Creveld syndrome, is a rare type of skeletal dysplasia. It is classified as a type of mesomelic limb shortening 5. Clinical spectrum Clinical features include: narrowing of thorax with short ribs small and flared ilia triradiate aceta...
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Chondrolysis

Chondrolysis, also known as acute cartilage necrosis, is an acute cartilage destruction of the femoral head. It is one of the complications that are specifically associated with slipped capital femoral epiphysis (SCFE). It is a poorly understood phenomenon. Epidemiology The quoted incidence is...
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Choroid plexus papilloma

Choroid plexus papillomas are an uncommon, benign (WHO grade I) neuroepithelial intraventricular tumour which can occur in both the paediatric (more common) and adult population.  On imaging, these tumours are usually identified in the fourth ventricle in adults and in the lateral ventricles in...
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Chrispin-Norman scoring system for cystic fibrosis

The Chrispin-Norman score is used to provide a summative assessment of structural lung changes in patients with cystic fibrosis on plain chest radiographs. It is useful to monitor disease progression or treatment response and can be used to compare between different patients in research studies...
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Chromosomal anomalies

There are large number of recognised chromosomal anomalies (many with eponymous names). When there is a change in the absolute number of chromosomes these are sub grouped as aneuploidic anomalies. They can cause variable handicap - outcome ranging from some having no effect (in some balanced tr...
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Chronic hereditary lymphedema

Chronic hereditary lymphedema or Milroy disease is a condition characterised by lower-limb lymphedema. Patients typically present with pedal oedema at or before birth or soon after. Occasionally, it develops later in life. Pathology Genetics Mutations in the FLT4 gene is thought to be present...
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Chronic hip subluxation

Chronic hip subluxation most common occurs in paediatric patients with neuromuscular disorders (e.g. cerebral palsy). It is considered a form of developmental hip dysplasia.  Epidemiology Chronic hip subluxation occurs in ~45% of cerebral palsy patients who are not walking by 5 years of age 3....
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Chronic recurrent multifocal osteomyelitis

Chronic recurrent multifocal osteomyelitis (CRMO) is an idiopathic inflammatory bone disorder seen primarily in children and adolescents. It is often a diagnosis of exclusion once underlying infection and neoplasia has been ruled out. However, there are some cases in which lesion location and mo...
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Chronic suppurative lung disease

Chronic suppurative lung disease (CSLD) refers to a group of conditions which includes: cystic fibrosis  bronchiectasis primary ciliary dyskinesia This term is usually used in the context of paediatric patients.
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Ciliopathies

Ciliopathies refer to diseases due to malfunctioning cilia (singular: cilium). Cilia are organelles that are external extensions of the cell membrane. Cilia fall into two main types: primary (or immotile) cilia and motile cilia.  Clinical presentation Primary cilia are found in virtually every...
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Classification of proximal focal femoral deficiency

Classification of proximal femoral deficiency (PFFD) can be complicated and numerous such classifications have been proposed. For a discussion of the condition refer to the article proximal focal femoral deficiency. One of the simplest and most widely used is that proposed by Aitken 1 which is ...
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Classification system for malformations of cortical development

Classification system for malformations of cortical development organises a myriad of conditions into one of three major underlying groups according to the main underlying mechanism: group I: abnormal cell proliferation or apoptosis group II: abnormal neuronal migration group III: abnormal co...
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Classification system for malformations of the cerebellum

Classification systems for malformations of the cerebellum are varied and are constantly being revised as greater understanding of the underlying genetics and embryology of the disorders is uncovered. A classification proposed by Barkovich et al. in 2009 1 divides cerebellar malformations in two...
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Classification system for midline abnormalities of the brain and skull

Classification systems for midline abnormalities of the brain and skull are varied and constantly changing as the underlying embryology and genetics are uncovered. A relatively simple and robust classification system is based on the location of abnormalities, always remembering that midline abno...
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Clear cell sarcoma of the kidney

Clear cell sarcomas of the kidney are a rare mesenchymal renal tumour that account for ~5% of primary renal neoplasms in the paediatric population 1.  Epidemiology CCS is the second most common primary malignant renal neoplasm after Wilms tumour, with an annual incidence of 20 cases in the Uni...
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Cleidocranial dysostosis

Cleidocranial dysostosis (CCD), also known as cleidocranial dysplasia, is a rare skeletal dysplasia with predominantly membranous bone involvement, which carries an autosomal dominant inheritance 4. Clinical presentation large head, with large fontanelles with delayed closure broad mandible ...
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CLOVES syndrome

CLOVE syndrome is an acronym denoting a rare condition consisting of: Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi Skeletal/Scoliosis/Spinal anomalies Abnormalities have a truncal predominance. Associated findings include: wide feet and hands macrodactyly scoli...
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COACH syndrome

The acronym COACH describes a syndrome associated with: C - cerebellar vermis defect (Joubert syndrome) O - oligophrenia A - ataxia C - coloboma H - hepatic fibrosis Epidemiology There only as little as 11 cases having been reported in the English medical literature....
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Cobb's collar

Cobb's collar (also known as a Moormann's ring or congenital narrowing of the bulbar uerthra) is a membranous stricture of the bulbar urethra just downstream of the external urethral sphincter. It is sometimes referred to as a type III posterior urethral valve, and does not maintain a connection...
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Coffin-Lowry syndrome

Coffin-Lowry syndrome (CLS) is a rare X-linked syndrome. Epidemiology Tends to affect males much more due to its x linked inheritance. The estimated incidence is at around 1:40000-50000. Clinical features It is characterised by a number of clinical features which include: central nervous sy...
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Coffin-Siris syndrome

Coffin-Siris syndrome, first described in 1970, is a rare genetic abnormality.  Epidemiology It occurs more frequently in females (with a M:F of ~4:1). Pathology Genetics It is thought most likely to relate to a gene on chromosome 7, however its exact location has yet to be determined. Cli...
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COL4A1 brain small-vessel disease

COL4A1 brain small-vessel disease is an autosomal dominant monogenic COL4A1-related disorder that primarily causes cerebral small vessel disease. Epidemiology The exact prevalence is unknown, but the condition is likely under-diagnosed. Clinical presentation The clinical presentation is vari...
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COL4A1-related disorders

COL4A1-related disorders are a group of autosomal dominant disorders caused by a mutation in the COL4A1 gene. Epidemiology The exact prevalence is unknown, but the group of disorders is considered to be under-recognised, especially asymptomatic variants 1. Clinical presentation The clinical ...
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Coloboma

Coloboma is collective term encompassing any focal discontinuity in the structure of the eye, and should not be confused with staphylomas, which are due to choroidal thinning.  Pathology Most commonly colobomas are due to failure of closure of the choroidal fissure posteriorly. Typically colob...
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Colpocephaly

Colpocephaly is a descriptive term for a disproportionate prominence of the occipital horns of the lateral ventricles. It can result from a wide range of congenital insults. Clinical presentation Patients may present with motor abnormalities, cognitive deficit, visual abnormalities, and seizur...
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Computed bone maturity (bone age) measurement

Computed bone age measurement refers to the automatic computer analysis of a left hand radiograph in order to estimate accurately bone age in cases of suspected growth delay.  Function Advanced digital processing of data from automatic computer analysis of the phalangeal/carpal bones and/ or e...
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Computed tomography scanogram for leg length discrepancy assessment

Computed tomography scanogram for leg length discrepancy assessment is performed in patients (children in most of the cases) with suspected inequality in leg length (anisomelia).  Technique obtained images are typically anteroposterior (AP) scout views of the bilateral femurs and tibias femor...
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Congenital aortic stenosis

Congenital aortic stenosis broadly refers to a congenital narrowing of the aortic lumen. Although the term can mean narrowing at any point, it often relates to a narrowing of the aortic valve. As a broad group, there can be some overlap with ascending aortic coarctation depending on the definiti...
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Congenital cardiovascular anomalies

Congenital cardiovascular anomalies are relatively common, with an incidence of up to 1% if small muscular VSDs are included. As a group, there is a much greater frequency in syndromic infants and in those that are stillborn.  Clinical presentation Broadly, congenital cardiovascular anomalies ...
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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 ...
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Congenital cerebral toxoplasmosis

Congenital cerebral toxoplasmosis is a manifestation of congenital toxoplasmosis and refers to development of cerebral toxoplasmosis in the fetus through maternal transmission. Please refer on congenital toxoplasmosis to a broad discussion on epidemiology and pathology.  Radiographic features ...
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Congenital cervical teratoma

Congenital cervical teratoma refers to a teratoma arising in the cervical region. They are thought to account for ~3% of teratomas in childhood/infancy 3. Epidemiology The estimated occurrence in neonates is ~1:20,000-40,000 live births 8. Clinical presentation Most tumours are diagnosed at ...
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Congenital cholesteatoma

Congenital cholesteatomas are identical to epidermoid cysts, differing only in name and location.  Pathology They are intraosseous inclusions of ectoderm, and are therefore comprised of keratin debris and cholesterol. Characteristically, they are located at the petrous apex. In contrast middle...
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Congenital cystic bronchiectasis

Congenital cystic bronchiectasis is a rare entity, and as the name suggests is characterised by cystic bronchiectasis found in infancy 1. The term appears to have fallen out of favour, due to variable use in older literature. In most instances of congenital cystic bronchiectasis has what is now ...
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Congenital cytomegalovirus infection

Congenital cytomegalovirus infection results from intra-uterine fetal infection by cytomegalovirus (CMV).  Epidemiology CMV is the most common cause of intra-uterine infection and most common cause of congenital infective and brain damage, occurring in 0.2-2.4% of live births.  Antibodies to ...
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Congenital diaphragmatic hernia

Congenital diaphragmatic herniation (CDH) accounts for a small proportion of all diaphragmatic herniae. However, it is one of the most common non-cardiac fetal intrathoracic anomalies. Epidemiology Congenital diaphragmatic hernias are seen in 1 of every 2000-4000 live births. 84% are left-side...
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Congenital facial palsy

A congenital facial palsy (CFP) is an uncommon cause of neonatal asymmetric crying facies, which are more frequently due to absence or hypoplasia of the depressor anguli oris muscle, often associated with other congenital anomalies.  Epidemiology CFP are reported with an incidence of ~0.2% of ...
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Congenital granular cell myoblastoma

A congenital granular cell myoblastoma (also known as congenital epulis) is a very rare benign tumour which classically presents in the fetal-neonatal population. Epidemiology It occurs almost exclusively in females when it presents in the fetal-neonatal population although no such predilectio...
Article

Congenital haemangioma

Congenital haemangiomas are benign vascular tumours of childhood that are present at birth. They are mostly indistinguishable from infantile haemangioma on imaging but have distinct histological and clinical features. While the majority are cutaneous or subcutaneous in nature, the can occur ext...
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Congenital heart disease chest x-ray (an approach)

With the advent of echocardiography, and cardiac CT and MRI, the role of chest radiographs in evaluating congenital heart disease has been largely been relegated to one of historical and academic interest, although they continue to crop up in radiology exams. In most instances a definite diagnos...
Article

Congenital high airways obstruction syndrome

Congenital high airways obstruction syndrome (CHAOS) refers to a rare, often lethal, congenital laryngotracheal condition and is primarily characterised by obstruction to the fetal upper airway. Pathology CHAOS can be of three possible types 2: complete laryngeal atresia without an oesophagea...
Article

Congenital hypothyroidism

Congenital hypothyroidism (CHT), previously known as cretinism, can be of thyroidal or central (hypothalamic/pituitary) origin and can have a widely diverse molecular aetiology. Clinical presentation Most children are asymptomatic at birth and are diagnosed after screening. In untreated CHT pa...
Article

Congenital infections (mnemonic)

The group of the most common congenital infections are referred to by the mnemonic TORCH or STORCH. They usually cause mild maternal morbidity, but are related to serious fetal consequences 4. Mnemonic T: toxoplasmosis O: other (e.g. syphilis, varicella-zoster, parvovirus B19) R: rubella C:...
Article

Congenital limb amputation

Congenital limb amputations are a limb anomaly that usually occur due to disruption of vascular supply. Epidemiology Congenital amputations occur in 0.5 (range 0.03-1) per 1000 live births 2.  Pathology Slightly more common in the upper limb (60%) than in the lower limb (40%) 2.  Aetiology ...
Article

Congenital lobar overinflation

Congenital lobar overinflation (CLO), previously called congenital lobar emphysema, is a congenital lung abnormality that results in progressive overinflation of one or more lobes of a neonate's lung.  On imaging, it classically presents on chest radiographs as a hyperlucent lung segment with o...
Article

Congenitally corrected transposition of the great arteries

Congenitally corrected transposition of the great arteries, also known as levo- or L-loop transposition (L-TGA), is a rare cardiovascular anomaly with inversion of the ventricles and great arteries. Epidemiology This anomaly comprises less than 1% of all congenital heart diseases 1,2,7.  Clin...
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Congenital megacalyces

Congenital megacalyces is an incidental finding which mimics hydronephrosis. It is a result of underdevelopment of the renal medullary pyramids with resultant enlargement of the calyces. It it more frequently seen in males. The enlarged, floppy calyces predispose to stasis, infection and calcul...
Article

Congenital megaureter

A congenital (primary) megaureter encompasses causes of an enlarged ureter which are intrinsic to the ureter, rather than as a result of a more distal abnormality; e.g. bladder, urethra (see secondary megaureter). It includes: obstructed primary megaureter refluxing primary megaureter althoug...
Article

Congenital muscular dystrophies (central nervous system manifestations)

Congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive myopathies presenting at birth with hypotonia, delayed motor development, and early onset of progressive muscle weakness, confirmed with a dystrophic pattern on muscle biopsy.  Clinical presentation There is...
Article

Congenital neuroblastoma

A congenital neuroblastoma is defined as neuroblastoma identified within a month of birth, and is divided into : fetal neuroblastoma neonatal neuroblastoma In most cases they present as stage 1, 2 or 4S (see neuroblastoma staging). Fetal neuroblastoma In 90% of cases fetal neuroblastomas ar...
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 pseudoarthrosis of the clavicle

Congenital pseudoarthrosis of the clavicle is a rare condition, which typically presents as an isolated anatomical variant.  Clinical presentation Usually presents as a midclavicular swelling in the neonate or young child 1.  Pathology Congenital pseudoarthrosis of the clavicle is more commo...
Article

Congenital pseudoarthrosis of the tibia

Congenital pseudoarthrosis of the tibia describes abnormal bowing that can progress to a segment of bone loss simulating the appearance of a joint. The condition is usually apparent shortly after birth and is rarely diagnosed after the age of two. Pathology The aetiology is unclear, however, a...
Article

Congenital pulmonary airway malformation

Congenital pulmonary airway malformations (CPAM) are multicystic masses of segmental lung tissue with abnormal bronchial proliferation. CPAMs are considered part of the spectrum of bronchopulmonary foregut malformations. Terminology Until recently they were described as congenital cystic adeno...
Article

Congenital pulmonary lymphangiectasia

Congenital pulmonary lymphangiectasia refers to congenital dilatation of the lymphatic system. It typically presents in infancy. It may be isolated to lung or may be part of a generalised lymphangiectasia. 

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