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.

1,168 results found
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Meckel diverticulum

Meckel diverticulum is a congenital intestinal diverticulum due to fibrous degeneration of the umbilical end of the omphalomesenteric (vitelline) duct that occurs around the distal ileum. It is considered the most common structural congenital anomaly of the gastrointestinal tract. Epidemiology ...
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Atresia

Atresia (plural: atresias) refers to a situation where there is absence, underdevelopment or abnormal closure, of a normal anatomical tubular structure or opening.  Contrast this with agenesis which refers to the complete absence of any anatomical structure including its primordial precursors. ...
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Pediatric hand (PA view)

The posteroanterior hand view for pediatrics is part of a two view series examining the phalanges, metacarpals, carpal bones and distal radioulnar joint.  Patient position patient is seated alongside the table the affected arm if possible is flexed at 90° so the arm and hand can rest on the t...
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Wrist series (pediatric)

The wrist series for pediatrics often consist of a posteroanterior and lateral view only in order to minimize radiation dose to the patient. Depending on departmental protocols, the oblique view may also be included as a standard view.  Indications trauma with suspected fracture suspected dis...
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Osteogenesis imperfecta

Osteogenesis imperfecta (OI) refers to a heterogeneous group of congenital, non-sex-linked, genetic disorders of collagen type I production, involving connective tissues and bones.  The hallmark feature of osteogenesis imperfecta is osteoporosis and fragile bones that fracture easily, as well a...
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Pediatric wrist (PA view)

The posteroanterior wrist view for pediatrics consists of three views in order to examine the carpal bones, distal radioulnar joint and metacarpals.  Patient position patient is either seated alongside the table or supine with arm outstretched the affected wrist is placed with palm on the ima...
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Filling defect

A filling defect is a general term used to refer to any abnormality on an imaging study which disrupts the normal opacification (filling) of a cavity or lumen. The opacification maybe physiological, for example bile in the gallbladder or blood in a dural venous sinus, or maybe due to the install...
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Suspected physical abuse

Suspected physical abuse (previously termed non-accidental injury, NAI) in infants and young children represent both ethical and legal challenges to treating physicians. Radiologists may be the first clinical staff to suspect non-accidental injuries when confronted with a particular injury patt...
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Pediatric hand (lateral view)

The lateral hand view for pediatrics is an orthogonal view taken along with the PA view of the hand. The lateral view is used to primarily assess for foreign bodies and/or displacement of fractures/dislocations. Patient position patient is seated alongside the table the affected arm if possib...
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Pediatric hand (oblique view)

The oblique hand view for pediatrics is part of a two view series examining the phalanges, metacarpals, carpal bones and distal radioulnar joint. Patient position patient is seated alongside the table the affected arm if possible is flexed at 90° so the arm and hand can rest on the table the...
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Lymphatic Malformation

Lymphatic malformations are benign lesions of vascular origin that show lymphatic differentiation. It is considered the lymphatic equivalent of a hemangioma of blood vessels.  This article focuses on the general features of lymphangiomas. For a specific discussion in other locations, please ref...
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Barium sulfate contrast medium

Barium sulfate (BaSO4), often just called barium in radiology parlance, is an ionic salt of barium (Ba), a metallic chemical element with atomic number 56. Barium sulfate forms the basis for a range of contrast media used in fluoroscopic examinations of the gastrointestinal tract. Unlike barium ...
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Gastro-esophageal reflux disease

Gastro-esophageal reflux disease (GERD) is a spectrum of disease that occurs when gastric acid refluxes from the stomach into the lower end of the esophagus across the lower esophageal sphincter (LES). Clinical presentation Common clinical features in adults include epigastric and retrosternal...
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Rhabdomyosarcoma

Rhabdomyosarcoma (RMS) is a malignant tumor with skeletal muscle cell morphology. It is one of the tumors of muscular origin.  This article focuses on a general discussion of rhabdomyosarcomas. For location specific details, please refer to: rhabdomyosarcomas of the biliary tract rhabdomyosar...
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Ewing sarcoma

Ewing sarcomas are the second most common malignant primary bone tumors of childhood after osteosarcoma, typically arising from medullary cavity with invasion of the Haversian system. They usually present as moth-eaten destructive permeative lucent lesions in the shaft of long bones with large s...
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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 center differentiating this from duodenal atresia.  Epidemiology Although they ar...
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Clothing artifact

Clothing artifacts, like jewelry artifacts, are a regular feature on imaging examinations, especially plain radiographs, but in general are recognized for what they are, either at the time the image is taken by the radiographer, or later by the reporting radiologist. The radiographer will often ...
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Anterior inferior iliac spine avulsion injury

Anterior inferior iliac spine (AIIS) avulsion injuries are one of the six main types of pelvic apophyseal avulsion fractures. Subacute or chronic avulsion injuries can be mistaken for a pseudotumor.  Epidemiology As with many pelvic avulsion injuries, they most often occur in adolescents (most...
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Apophyseal avulsion fractures of the pelvis and hip

Apophyseal avulsion fractures of the pelvis and hip are relatively common among physically active adolescents and young adults. Epidemiology Pelvic and hip apophyseal injuries typically occur in the 14 to 25 year age range. Mechanism Kicking sports, such as soccer, and gymnastics are frequen...
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Afibrinogenemia

Afibrinogenemia, also called congenital afibrinogenemia, is a rare autosomal recessive inherited blood disorder due to deficiency of the clotting protein fibrinogen. The disorder is associated with increased risk of spontaneous hemorrhage1. Epidemiology Afibrinogenemia has an estimated prevale...
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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. Associations The as...
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Lissencephaly type I - subcortical band heterotopia spectrum

Lissencephaly type I, also known as classic lissencephaly, is a heterogeneous group of disorders of cortical formation characterized by a smooth brain, with absent or hypoplastic sulci and is strongly associated with subcortical band heterotopia (see classification system for cortical malformati...
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Hypoplastic left heart syndrome

Hypoplastic left heart syndrome (HLHS) is a cyanotic congenital cardiac anomaly where affected individuals can have profound cyanosis and cardiac failure. It is one of the commonest causes for a neonate to present with congestive cardiac failure and the 4th most frequent cardiac anomaly to mani...
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Hirschsprung disease

Hirschsprung disease is the most common cause of neonatal colonic obstruction (15-20%). It is commonly characterized 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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Rhinolith

Rhinoliths, also known as nasal calculi, are uncommon lesions that result from a chronic inflammatory response to complete or partial mineralized encrustation of intranasal foreign bodies. They are most commonly seen in children and cognitively impaired adults who insert foreign bodies into thei...
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Birth trauma

Birth trauma (a.k.a. birth injury) relates to those conditions caused by both physical/mechanical and hypoxic injuries. Epidemiology Birth trauma occurs in ~5 per 1000 births 2. Risk factors asphyxia breech presentation shoulder dystocia instrument delivery macrosomia obstructed labor ...
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Octreotide scintigraphy

Octreotide scintigraphy uses 111In-labeled octreotide which is a somatostatin analog; it is also known as an OctreoscanTM, a brand name for 111In-labeled pentetreotide; pentetreotide is a DTPA-conjugated form of octreotide, originally manufactured by Mallinckrodt Nuclear Medicine LLC, which now ...
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Neuroblastoma vs Wilms tumor

Both neuroblastoma and Wilms tumor occur in early childhood and typically present as large abdominal masses closely related to the kidneys. Distinguishing between the two is important, and a number of features are helpful. Neuroblastoma calcification very common: 90% encases vascular structur...
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Pleuropulmonary blastoma

Pleuropulmonary blastomas (PPBs) are a rare, variably aggressive, childhood primary intrathoracic malignancy. In up to 25% of cases, the mass can be extrapulmonary with attachment to the parietal pleura.  Epidemiology Pleuropulmonary blastoma is encountered in childhood, mostly in the first ye...
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Neuroblastic tumors

Neuroblastic tumors arise from primitive cells of the sympathetic system and include the following entities: neuroblastoma ganglioneuroblastoma ganglioneuroma These entities represent a spectrum of disease from undifferentiated and aggressive (neuroblastoma) to the well differentiated and la...
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Neonatal respiratory distress (causes)

Causes of neonatal distress can be broadly split into intrathoracic, extrathoracic and systemic: Intrathoracic Medical respiratory distress syndrome (RDS) transient tachypnea of the newborn (TTN) meconium aspiration syndrome bronchopulmonary dysplasia (BPD) patent ductus arteriosus (PDA) ...
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Neonatal lines and tubes

Neonatal lines and tubes are widely used in the NICU (neonatal intensive care unit) in the management of critically ill neonates. Examples include: nasogastric (NG) tube endotracheal (ET) tube central venous line umbilical artery catheter umbilical vein catheter Nasogastric tube The NG tu...
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Neonatal encephalopathy

Neonatal encephalopathy is a clinical syndrome referring to signs and symptoms of abnormal neurological function in the first few days of life in a neonate born at or beyond 35 weeks of gestation. It is described as difficulty with initiating and maintaining respiration, depression of tone and r...
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Porencephaly

Porencephaly is a rare congenital disorder that results in cystic degeneration and encephalomalacia and the formation of porencephalic cysts. The term is used variably among radiologists with its broadest definition being a cleft or cystic cavity within the brain 9, and its more narrow definitio...
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Scimitar syndrome (lungs)

Scimitar syndrome, also known as hypogenetic lung syndrome, is characterized by a hypoplastic lung that is drained by an anomalous pulmonary vein into the systemic venous system. It is a type of partial anomalous pulmonary venous return and is one of the several findings in congenital pulmonary ...
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Familial adenomatous polyposis syndrome

Familial adenomatous polyposis syndrome (FAPS) is characterized by the presence of hundreds of adenomatous polyps in the colon. It is the most common of the polyposis syndromes. Terminology Familial polyposis coli, attenuated familial adenomatous polyposis and Gardner syndrome are all variants...
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MIBG

MIBG scan is a scintigraphic study that uses metaiodobenzylguanidine, norepinephrine analog, labeled to iodine-123 or iodine-131. It is indicated in the investigation of pheochromocytoma. MIBG is positive in: neuroblastoma olfactory neuroblastoma 1 carcinoid tumor 4 paraganglioma pheochrom...
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Rickets

Rickets, less commonly known as rachitis, refers to deficient mineralization of the growth plate in the pediatric population. In contrast, osteomalacia refers to deficient mineralization of the bone matrix, which co-occurs with rickets but can also occur even after growth plate closure, in adult...
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Crohn disease

Crohn disease, also known as regional enteritis, is an idiopathic inflammatory bowel disease characterized 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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Brachydactyly

Brachydactyly (BD) essentially refers to short digits. It is often inherited as an autosomal dominant trait (all the types). The clinical spectrum can widely range from minor digital hypoplasia to complete aplasia. As a group, it most commonly involves the middle phalanx 2. Single or multiple b...
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Fibrous dysplasia

Fibrous dysplasia (FD) is a non-neoplastic tumor-like congenital process, manifested as a localized defect in osteoblastic differentiation and maturation, with the replacement of normal bone with large fibrous stroma and islands of immature woven bone. Fibrous dysplasia has a varied radiographic...
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Pediatric elbow (lateral view)

The lateral elbow view for pediatrics is part of a two view elbow series, examining the distal humerus, proximal radius and ulna. The projection is the orthogonal view of the AP elbow allowing for examination of the ulna-trochlear joint, coronoid process, and the olecranon process. Used to asse...
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Pediatric elbow (AP view)

The anteroposterior elbow view for pediatrics is part of the two view elbow series, examining the distal humerus, proximal radius and ulna.  The projection demonstrates the elbow joint in its natural anatomical position allowing for adequate radiographic examination of the articulations of the ...
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Pediatric elbow (horizontal beam AP view)

The horizontal beam anteroposterior elbow view for pediatrics is an alternative projection to the anteroposterior view in the elbow series, examining the distal humerus, proximal radius and ulna.  The projection demonstrates the elbow joint in its natural anatomical position allowing for adequa...
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Elbow series (pediatrics)

The elbow series for pediatrics is a set of radiographs taken to investigate elbow joint pathology, often in the context of trauma. It usually comprises an anteroposterior and lateral projection in order to minimize radiation dose to the patient. Depending on the department and clinical indicati...
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Hand series (pediatric)

The hand series for pediatrics often consist of a posteroanterior and lateral view only in order to minimize radiation dose to the patient. Depending on the department and clinical indication, an additional oblique view may also be done. Indications trauma with suspected fracture suspected di...
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Posterior urethral valves

Posterior urethral valves (PUVs), also referred as congenital obstructing posterior urethral membranes (COPUM), are the most common congenital obstructive lesion of the urethra and a common cause of obstructive uropathy in infancy. Epidemiology Posterior urethral valves are congenital and only...
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Colonic transit study

The colonic transit study is an older technique to estimate colonic transit time.  Indications In constipation, it can help distinguish between slow colonic transit and a defecation disorder. Procedure The patient ingests a number of radiopaque markers (plastic rings containing radiopaque ma...
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IgA vasculitis

IgA vasculitis (formerly known as Henoch-Schonlein purpura (HSP)) is a type of non-thrombocytopenic immune-mediated small vessel acute leukocytoclastic vasculitis. It tends to occur in the pediatric population (peak incidence 3-10 years) 3. In order to differentiate from other types of vasculi...
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Midgut volvulus

Midgut volvulus is a complication of malrotated bowel. It may result in proximal bowel obstruction with resultant ischemia if prompt treatment is not instigated. Epidemiology A midgut volvulus of malrotated bowel can potentially occur at any age but in approximately 75% of cases occur within a...
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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 ...
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Upper limb radiography (pediatric)

Upper limb radiography involves plain film imaging of the shoulder, humerus, ulna, radius, metacarpals and carpal bones in pediatric patients. Depending on the patients' age, the difficulty of the examination will vary, often requiring a specialist trained radiographer familiar with a variety of...
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Klippel-Feil syndrome

Klippel-Feil syndrome is a complex heterogeneous entity that results in cervical vertebral fusion. Two or more non-segmented cervical vertebrae are usually sufficient for diagnosis. Epidemiology There is a recognized female predilection 1. Klippel-Feil syndrome has an incidence of 1:40,000-42,...
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Eisenmenger syndrome

The 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 high pressure and high flow 3. As su...
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Sinding-Larsen-Johansson disease

Sinding-Larsen-Johansson disease (SLJ), also known as Sinding-Larsen disease or Larsen-Johansson syndrome, affects the proximal end of the patellar tendon as it inserts into the inferior pole of the patella. It represents a chronic traction injury of the immature osteotendinous junction. It is a...
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Pyrexia

Pyrexia (or fever) is a clinical sign, indicated by an abnormally elevated core body temperature, which is defined by several medical societies as ≥38.3°C (≥101°F). The temperature elevation may be persistent or episodic. If the body temperature is greater than 41.5°C - a rare phenomenon - it is...
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Burkitt lymphoma

Burkitt lymphoma 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 for 1-...
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Hyperpyrexia

Hyperpyrexia is a term reserved for very high fevers and is usually only deemed to be present when the core body temperature is >41.5°C 1,2. Clinical presentation Very high fevers appear to be markedly deleterious for cognitive wellbeing, patients often being delirious and mentally impaired wi...
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Spinal dysraphism

Spinal dysraphisms refer to a broad group of malformations affecting the spine and/or surrounding structures in the dorsum of the embryo. They are a form of neural tube defect. Pathology The neural tube is formed by the lengthwise closure of the neural plate, in the dorsum of the embryo. The ...
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Hemophagocytic lymphohistiocytosis

Hemophagocytic lymphohistiocytosis (HLH), also known as macrophage activation syndrome when occurring in the setting of a rheumatologic disorder, is a non-malignant but often-fatal disorder of immune dysregulation affecting multiple organs. Epidemiology It typically affects infants and young c...
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Thalassemia

Thalassemia is an autosomal recessive hemoglobinopathy 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 hemoglobin molecules. The resultant microcytic anemia is the characteristic prese...
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Measles

Measles is a highly contagious infection caused by the measles virus. Epidemiology The measles vaccine, first introduced in 1963, has significantly reduced the incidences of measles. However, it remains endemic in countries with low vaccination rates 1. Worldwide, it is the leading cause of va...
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Coloboma

Coloboma is a 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 Embryologically, colobomas are due to the failure of closure of the choroidal fissure. The most common si...
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Autosomal recessive polycystic kidney disease

Autosomal recessive polycystic kidney disease (ARPKD) is one of many pediatric cystic renal diseases. On imaging, it usually presents on ultrasound with enlarged echogenic kidneys with multiple small cysts. Liver involvement with coarse echotexture, biliary tract cystic changes, and portal hype...
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Anterior fontanelle

The anterior or frontal fontanelle is the diamond-shaped soft membranous gap at the junction of the coronal and sagittal sutures. It persists until approximately 18-24 months after birth, after which it is known as the bregma. The precise timing of the anterior fontanelle closure is quite variab...
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Posterior fontanelle

The posterior fontanelle or occipital fontanelle is the triangular soft membranous gap at the junction of the lambdoid and sagittal sutures. It persists until approximately 2-3 months after birth, after which it is known as the lambda. It can be used as an additional sonographic window for perfo...
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Sphenoidal fontanelles

The sphenoidal or anterolateral fontanelles are paired bilateral soft membranous gaps at the junction of the coronal, sphenofrontal, sphenoparietal, sphenosquamosal, and squamosal sutures. Each mastoid fontanelle persists until approximately six months after birth, after which it is known as the...
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Mastoid fontanelle

The mastoid or posterolateral fontanelles are paired bilateral soft membranous gaps at the junction of the parietomastoid, occipitomastoid, and lambdoid sutures. Each mastoid fontanelle persists until the second year of life, after which it is known as the asterion. It can be used as an addition...
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Nephroblastomatosis

Nephroblastomatosis refers to diffuse or multifocal involvement of the kidneys with nephrogenic rests (persistent metanephric blastema). Epidemiology Nephrogenic rests are found incidentally in 1% of infants. Pathology Nephrogenic rests are foci of metanephric blastema that persist beyond 36...
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Osteopoikilosis

Osteopoikilosis is a sclerosing bony dysplasia characterized by multiple benign enostoses. It is a rare inherited benign condition incidentally found on skeletal x-rays. Its importance is predominantly in correct diagnosis so that it is not mistaken for pathology. Epidemiology The bone islands...
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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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Tc-99m pertechnetate

Tc-99m pertechnetate (Na+ 99mTc O4-) is one of the technetium radiopharmaceuticals used in imaging of thyroid, colon, bladder and stomach. Technetium (99mTc) has eight oxidation states 6, from -1 to +7; specifically, the oxidation state of technetium in the pertechnetate anion (99mTcO4-) is +7....
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Synovial hemangioma

Synovial hemangiomas are rare benign vascular malformations that occur in relation to the joint. It is sometimes considered a subtype of soft tissue hemangiomas. Epidemiology The lesions typically present in children and young adults. Occasionally patients can have recurrent haemarthroses 8. ...
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Proximal radio-ulnar synostosis

Proximal radio-ulnar synostosis is an upper limb skeletal malformation characterized by bony fusion at the proximal aspect of the radius and ulna. Of the radio-ulnar synostoses, the proximal third is considered the most common site.  Pathology It is often congenital but can rarely result follo...
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Neonatal pneumonia

Neonatal pneumonia refers to inflammatory changes of the respiratory system caused by neonatal infection. Epidemiology It is one of the leading causes of significant morbidity and mortality in developing countries. Neonatal pneumonia accounts for 10% of global child mortality. At the time of w...
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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. Epidemiology Associations scoliosis (common) 2 cyanotic congenital heart disease (uncommon) Marfan syndrome familial occ...
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Bochdalek hernia

A Bochdalek hernia (plural: hernias or herniae) is a form of congenital diaphragmatic hernia. They occur posteriorly and are due to a defect in the posterior attachment of the diaphragm when there is a failure of pleuroperitoneal membrane closure in utero. Retroperitoneal structures may prolapse...
Article

Polymicrogyria

Polymicrogyria is one of many malformations of cortical development (see classification system for cortical malformations), and along with grey matter heterotopias, falls under a bewildering group of conditions characterized by abnormalities both in the migration of neurons to the cortex and abn...
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Alobar holoprosencephaly

Alobar holoprosencephaly is a subtype of holoprosencephaly and is the most severe of the classical three subtypes, with both semilobar and lobar holoprosencephaly having less severe clinical manifestations. For a general discussion of epidemiology, clinical presentation, and pathology, please r...
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Lobar holoprosencephaly

Lobar holoprosencephaly is the least severe of the classical subtypes of holoprosencephaly (HPE), characterized by the presence of the inter-hemispheric fissure along almost the entire midline, and with the thalami being completely or nearly completely separated 5. As with all types of HPE, it ...
Article

Lumbar Scheuermann disease

Lumbar Scheuermann disease is a type of variant Scheuermann disease where there is no abnormal kyphosis. This has been reported in the lumbar spine and thoracolumbar junction of patients of all ages, and back pain may be present. On imaging, affected individuals can have vertebral endplate chan...
Article

Dandy-Walker continuum

Dandy-Walker continuum, also referred to as Dandy-Walker spectrum or Dandy-Walker complex, corresponds to a group of disorders believed to represent a continuum spectrum of posterior fossa malformations, characterized by inferior vermian hypoplasia and incomplete formation of the fourth ventricl...
Article

Microcephaly

Microcephaly (plural: microcephalies) is a descriptive term meaning a small head and is associated with numerous disorders of diverse etiology. It is usually associated with microencephaly  (plural: microencephalies) (small brain). For the purpose of this article, the two will be used interchang...
Article

Frontonasal dysplasia

Frontonasal dysplasia, also known as median cleft face syndrome, is a rare disorder characterized by midline defects involving the face, head, and central nervous system. Epidemiology Frontonasal dysplasia is considered to be a very rare condition, with approximately 100 cases having been repo...
Article

Cerebellar hypoplasia

Cerebellar hypoplasia is a type of congenital morphological cerebellar abnormality in which the cerebellum has reduced volume, but a normal shape, and is stable over time 1,4. The pattern of volume loss may be regional (affecting only part of the cerebellum) or global.  Terminology Global cere...
Article

Holoprosencephaly

Holoprosencephaly (HPE) is a rare congenital brain malformation resulting from incomplete separation of the two hemispheres. Classically three subtypes have been recognized, however additional entities are now included in the spectrum of the disease. The three main subtypes, in order of decreas...
Article

Septo-optic dysplasia

Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a condition characterized by optic nerve hypoplasia and absence of the septum pellucidum and, in two-thirds of patients hypothalamic-pituitary dysfunction. It is best thought of as being part of the holoprosencephaly spectrum (se...
Article

Chiari I malformation

Chiari I malformation is the most common variant of the Chiari malformations and is characterized by a caudal descent of the cerebellar tonsils (and brainstem in its subtype, Chiari 1.5) through the foramen magnum. Symptoms are proportional to the degree of descent. MRI is the imaging modality o...
Article

Hunter syndrome

Hunter syndrome, also known as mucopolysaccharidosis type II (MPS II) is a rare genetic mucopolysaccharidosis disorder characterized by specific clinical features 1. Epidemiology Hunter syndrome is an X-linked recessive disease and therefore much more common in males. It is a rare disorder wit...
Article

Metaphyseal chondrodysplasia

Metaphyseal chondrodysplasia (also known as metaphyseal dysplasia or dysostosis) is a type of skeletal dysplasia. Pathology Classification Schmid type - mild type, due to mutation in type X collagen (COL10A1 gene), metaphyses are cupped resembling rickets Pena and Vaandrager type - intermedi...
Article

Ureterocele

Ureteroceles represent abnormal congenital dilatation of the distal-most portion of the ureter. The dilated portion of the ureter may herniate into the bladder secondary to the abnormal structure of vesicoureteric junction (VUJ). Epidemiology A ureterocele occurs in about 1 in 4000 children an...
Article

Vesicoureteric reflux

Vesicoureteric reflux (VUR) is the term for the abnormal flow of urine from the bladder into the upper urinary tract and is typically encountered in young children. For grading of vesicoureteric reflux, please refer to vesicoureteric reflux grading. Epidemiology The incidence of urinary tract...
Article

Single umbilical artery

Single umbilical artery (SUA) results when there is a congenital absence of either the right or left umbilical artery. In the usual situation, there are paired umbilical arteries. For unknown reasons, the absence of the left umbilical artery is much more common (~70%). Epidemiology The estimat...

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