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.

802 results found
Article

Fukuyama congenital muscular dystrophy

Fukuyama congenital muscular dystrophy (FCMD) is a form of congenital muscular dystrophy. Epidemiology FCMD is almost exclusively found in Japan where it has an incidence of 2-4 per 100,000 infants and is the second most common muscular dystrophy after Duchenne muscular dystrophy 1,2. However,...
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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...
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Galeazzi fracture-dislocation

Galeazzi fracture-dislocations consist of fracture of the distal part of the radius with dislocation of distal radioulnar joint and an intact ulna. A Galeazzi-equivalent fracture is a distal radial fracture with a distal ulnar physeal fracture 2. Epidemiology Galeazzi fractures are primarily e...
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Gallbladder ghost triad

Gallbladder ghost triad is a term used on ultrasound studies when there is a combination of three gallbladder features on biliary atresia: atretic gallbladder, length less than 19 mm irregular or lobular contour  lack of smooth/complete echogenic mucosal lining with an indistinct wall
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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...
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Gastric duplication cyst

A gastric duplication cyst is a rare congenital foregut duplication cyst affecting the stomach. It accounts for less than 10% of all gastrointestinal duplications. The most common site of gastrointestinal tract duplication cysts (GTDC's) are the ileum, followed by oesophagus, large bowel and jej...
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...
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Generalised increased bone density in children

The causes of generalised increased bone density in paediatric patients can be divided accodring to broad categories of cause : skeletal dysplasias osteopetrosis pyknodysostosis metabolic renal osteodystrophy poisoning lead dense metaphyseal bands cortex and flat bones may also be sligh...
Article

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 ...
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Germinal matrix haemorrhage (grading)

Grading of germinal matrix haemorrhage has taken several forms over the years. The most commonly used system is the sonographic grading system proposed by Burstein, Papile et al.  Classification grade I restricted to subependymal region/germinal matrix which is seen in the caudothalamic groov...
Article

Ghost vertebra

Ghost vertebra is a sign, that is generally used synonymously with bone-within-a-bone vertebra, and as such, the causes form a subset of those causing bone within a bone appearance 2: Thorotrast administration: bone within a bone appearance due to temporary growth arrest 1 stress line rickets...
Article

Glutaric aciduria type 1

Glutaric aciduria type 1 is a leukodystrophy that can be subclassified as an organic acidopathy. It has a highly variable clinical presentation, and laboratory investigations are not always diagnostic. Imaging, therefore, has an important role to play as the MRI features can be characteristic. ...
Article

Glycogen storage disease

Glycogen storage disease (GSD) refers to a number of syndromes which are characterised by a defect in synthesis, metabolism or storage of glycogen. Pathology There are many types of GSD: type I: von Gierke disease type II: Pompe disease type III: Cori or Forbes disease type IV: Andersen di...
Article

Goldenhar syndrome

Goldenhar syndrome (also known as oculo-auriculo-vertebral spectrum (OAVS), Goldenhar-Gorlin syndrome or facio-auriculo-vertebral dysplasia) is a complex congenital anomaly characterised by abnormalities of the ears, eyes and vertebrae. Epidemiology The estimated incidence is at  1 in 3000-500...
Article

Gomez-Lopez-Hernandez syndrome

Gomez-Lopez-Hernandez syndrome, also known as cerebellotrigeminal-dermal dysplasia, is a rare phakomatosis characterised by rhombencephalosynapsis, parietal-occipital scalp alopecia, brachycephaly, facial malformations and trigeminal anesthesia.  History and etymology It is named after Manuel ...
Article

Gonadal dysgenesis

Gonadal dysgenesis refers to a spectrum of anomalies with abnormal development of the gonads. It falls under the even broader group of disorders of gender development. Pathology In many cases the gonads are replaced by fibrous tissue. Subtypes complete gonadal dysgenesis (CGD) / Swyer syndro...
Article

Gonadoblastoma

Gonadoblastomas are uncommon sex cord / stromal tumours. They are associated with disorders of sexual development (previously known as "intersex disorders"). Epidemiology The vast majority are found <30 years of age. Most are discovered in the perinatal period. May occur in phenotypic males or...
Article

Gracile bones (mnemonic)

The causes of gracile bones can be recalled with the following mnemonic: Mnemonic NIMROD N: neurofibromatosis I: immobilisation/paralysis M: muscular dystrophy, e.g. Duchenne muscular dystrophy R: rheumatoid arthritis (juvenile RA) O: osteogenesis imperfecta D: dysplasia, e.g. Marfan syn...
Article

Graf method for ultrasound classification of developmental dysplasia of the hip

The Graf method for ultrasound classification system for developmental dysplasia of the hip (DDH) in infants, combines both alpha and beta angles. There are a number of additional subdivisions, which are often not used clinically.  As a general rule, the alpha angle determines the type and in s...
Article

Granulocytic sarcoma

Granulocytic sarcoma (also called myeloid sarcoma and chloroma) is a rare neoplasm comprised of myeloid precursor cells. It can occur in association with: acute myeloid leukaemia (AML) chronic myeloid leukaemia (CML) other myeloproliferative disorders such as myelofibrosis with myeloid meta...
Article

Greenstick fracture

Greenstick fractures are incomplete fractures of long bones and are usually seen in young children, more commonly less than 10 years of age. They are commonly mid-diaphyseal, affecting the forearm and lower leg. They are distinct from torus fractures. Pathology Mechanism Greenstick fractures ...
Article

Grey matter heterotopia

The grey matter heterotopias are a relatively common group of conditions characterised by interruption of normal neuronal migration from near the ventricle to the cortex, thus resulting in "normal neurons in abnormal locations" 2. They are a subset of disorders of cortical formation 3-4. Grey m...
Article

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...
Article

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

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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Haemophagocytic lymphohistiocytosis

Haemophagocytic lymphohistiocytosis (HLH) is a nonmalignant disorder of immune regulation characterised by overproduction of cytokines and diminished immune surveillance. It may affect multiple organs. Epidemiology It typically affects infants and children 5. Pathology The condition can be p...
Article

HANAC syndrome

Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant monogenic COL4A1-related disorder. Epidemiology The exact prevalence is unknown. Clinical presentation The cardinal features of HANAC syndrome are helpfully described in the name of...
Article

Hand-foot-and-mouth disease

Hand-foot-and-mouth disease is a viral illness that manifests as vesicular eruption 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

Harlequin eye deformity

The harlequin eye deformity may be seen in unilateral (plagiocephaly) or bilateral (brachycephaly) coronal suture synostosis, and refers to the elevation of the superolateral corner of the orbit. The term harlequin eye derives from the appearance of the eyes on a harlequin mask with their exagg...
Article

Harrison's sulcus

Harrison's sulcus or Harrison's groove refers to a groove at the lower end of the rib cage seen in young children / infants with abnormally weak bones (e.g. rickets) or chronic respiratory disease (e.g. severe asthma). The lower chest is drawn in with flaring of the rib margin. The exact cause i...
Article

Haystack sign (pneumomediastinum)

The haystack sign on chest x-rays in paediatric patients is indicative of pneumomediastinum. The paediatric heart is surrounded above and below with gas, giving it an appearance of a haystack from Monet's paintings. 
Article

Heiner syndrome

The Heiner syndrome is a rare form of primary pulmonary haemosiderosis associated with an allergy to cow's milk. The syndrome includes: rectal blood loss with hypochromic microcytic anaemia pulmonary infiltrates (often recurrent) hypoproteinaemia See also pulmonary haemosiderosis
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

Hemihyperplasia

Hemihyperplasia, also known as hemihypertrophy, is asymmetry in size between the right and left of the body, more than can be attributed to normal variation. Terminology Hemihyperplasia is more scientifically correct than hemihypertrophy as the cells are hyperplastic rather than hypertrophied ...
Article

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...
Article

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...
Article

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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Hepatoblastoma histological classification

Although hepatoblastomas can be histologically classified into a variety of sub types, it is important to remember that with the possible exception of small cell undifferentiated sub type, prognosis is independent of histology when adjusted for stage gender and age 1. major categories epitheli...
Article

Hepatoblastoma (staging)

As expected there are a number of different staging systems for hepatoblastoma. Staging PRETEXT grouping system of paediatric liver tumours not specific to hepatoblastoma; used in all paediatric liver tumours Intergroup staging system specific for hepatoblastoma (see below) Intergroup stag...
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Hereditary connective tissue disease

Hereditary connective tissue diseases are a group of connective tissue disease that have a degree of inheritance risk. They include :  Marfan syndrome - genetic disease causing abnormal fibrillin Ehlers-Danlos syndrome - progressive deterioration of collagen and affects joints, heart v...
Article

Herpes simplex encephalitis

Herpes simplex (HSV) encephalitis is the most common cause of fatal sporadic fulminant necrotizing viral encephalitis and has characteristic imaging findings.  Two subtypes are recognised which differ in demographics, virus and pattern of involvement. They are 1: neonatal herpes encephalitis ...
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

Hilgenreiner line

The Hilgenreiner line is a line drawn horizontally through the inferior aspect of both triradiate cartilages. It should be horizontal, but is mainly used as a reference for Perkin line and measurement of the acetabular angle. Use of this line with the other lines and angles is used to diagnose ...
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

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 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

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 ...
Article

Hoffa's fat pad herniation

Hoffa's fat pad herniation is defined as herniation of infrapatellar fat through a defect in the lateral retinaculum. It is an uncommon cause of an anterolateral knee mass often detected at the fully flexed knee 1. Clinical presentation Mainly occurs in preschool-aged and young children as a p...
Article

Holoprosencephaly

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

Humeral condyle fracture

Humeral condyle fractures represent fractures through the medial or lateral distal humeral condyles. 
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Hunka classification of neonatal septic arthritis of the hip

Type I: Absent or minimal femoral head changes. Type II: A: deformity of the femoral head with intact physis. B: deformity of the femoral head with premature physeal closure. Type III: Pseudarthrosis of the femoral neck. Type IV: A:Complete destruction of the capital femoral epiphysis wit...
Article

Hurler syndrome

Hurler syndrome is one of the mucopolysaccharidosis (MPS type I). It carries an autosomal recessive inheritance and manifests in the first years of life. It is clinically characterised by mental retardation, corneal clouding, deafness and cardiac disease, with death resulting in first decade of...
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Hutchinson syndrome

Hutchinson syndrome is limping and irritability due to skeletal metastases from neuroblastoma. It should not be confused with: Hutchinson's triad Hutchinson pupil Hutchinson freckle Hutchinson teeth Hutchinson's sign History and etymology Described by Sir Robert Grieve Hutchison (1871-19...
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Hybrid lesion (paediatric chest)

A hybrid lesion in paediatric chest radiology refers to a combination of a congenital pulmonary airways malformation (CPAM) and a pulmonary sequestration (most commonly extralobar). It falls under a type of bronchopulmonary foregut malformation. Due to more sophisticated imaging, they are increa...
Article

Hydranencephaly

Hydranencephaly is a rare encephalopathy that occurs in-utero. It is characterised by destruction of the cerebral hemispheres which are transformed into a membranous sac containing cerebrospinal fluid and the remnants of cortex and white matter 1. Porencephaly is considered a less severe degree...
Article

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...
Article

Hydronephrosis (grading)

Grading systems of hydronephrosis have been devised to communicate the degree of upper collecting system dilatation. The most common system used (Society of Fetal Ultrasound, SFU) was originally designed for grading neonatal and infant hydronephrosis: grade 0 no dilatation, calyceal walls are ...
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Hypertrophic pyloric stenosis (ultrasound measurements mnemonic)

Hypertrophic pyloric stenosis can be characterised in ultrasound studies by the measurements of the hypertrophic muscle. Although the criteria can vary from publication to publication, an easy way to keep in mind those values is remembering the first digits of the number "pi", also represented b...
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Hypervitaminosis A

Hypervitaminosis A results from an excess of vitamin A. It usually manifests in children, and one recognised cause is administration from 13-cis retinoic acid for treatment of cancers such as neuroblastoma. Pathology Manifestations can differ depending on whether it is an acute or chronic exce...
Article

Hypophosphatasia

Hypophosphatasia refers to a rare metabolic disorder characterised by deficient serum alkaline phosphatase activity. The effects of hypophosphatasia are primarily seen in the skeletal system. The condition has marked variation in clinical expression (see subtypes). Epidemiology The true incide...
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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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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...
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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...
Article

IgA vasculitis

IgA vasculitis (formally known as Henoch-Schonlein purpura (HSP)) is a type of non-thrombocytopaenic immune-mediated small vessel acute leukocytoclastic vasculitis. It tends to occur in the paediatric population (peak incidence 3-10 years) 3. In order to differentiate from other types of vascu...
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Ileal atresia

Ileal atresia is a congenital abnormality where there is significant stenosis or complete absence of a portion of the ileum. There is an increased incidence in those with chromosomal abnormalities. This article will focus on ileal atresia alone but bear in mind that some cases correspond to jej...
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Incomplete fractures

Incomplete fractures are a heterogeneous group of fractures that predominantly occur in the long bones of paediatric patients. Rang 1 describes a continuum of fractures that occur with increasing longitudinal force applied along the length of the bone. At the point where force exceeds the struct...
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Incomplete hippocampal inversion

Incomplete hippocampal inversion unsurprisingly describes the situation where the normal inversion of the hippocampus fails to happen during development. Terminology Incomplete hippocampal inversion is the most correct description of this finding. Hippocampal malrotation is a term used by some...
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Increased bone age

A generalised acceleration in bone maturation can result from a number of aetiological factors. They include: endocrine disorders idiopathic isosexual precocious puberty hypothalamic or parathalamic lesion with sexual precocity: e.g. craniopharyngioma astrocytoma hypothalamic hamartoma hy...
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Infantile cervical ligament oedema

Infantile cervical ligament oedema can typically be seen when infants have suffered accidental or abusive head and neck trauma. The finding is best seen on sagittal STIR images. Terminology The posterior ligamentous complex refers to the ligamentum flavum and interspinous ligaments. The anteri...
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Infantile haemangioma

Infantile haemangiomas are benign vascular neoplasms that correspond to the most common tumours of infancy. They virtually can occur anywhere, but the majority has a head and neck distribution. Characteristic growth and subsequent involution observed during the early childhood is the usual natur...
Article

Infantile hepatic haemangioma

Infantile hepatic haemangiomas (IHH) are a liver lesion composed of large endothelial-lined vascular channels seen in fetuses and neonates. It should not be confused with a hepatic epithelioid haemangioendothelioma, which occurs in older patients. Terminology Those benign tumours were previous...
Article

Ingested foreign bodies in children

Ingested foreign bodies in children are common as the world is a curious place to young children, who will put anything and everything into their mouth, and will often inadvertently swallow.  The usual practice is for plain films of the chest/abdomen to identify a foreign body. Epidemiology P...
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Innominate artery compression syndrome

Innominate artery compression syndrome, also known as brachiocephalic artery compression syndrome, is a rare cause of tracheal stenosis that occurs in the paediatric population. Pathology It can only occur in the presence of an aberrantly positioned thymus that forces the aortic arch or innomi...
Article

Interrupted aortic arch

Interrupted aortic arch (IAA) is an uncommon congenital cardiovascular anomaly where there is a separation between the ascending and descending aorta. It can either be complete or connected by a remnant fibrous band. An accompanying large ventricular septal defect (VSD) and/or patent ductus arte...
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Intestinal failure

Intestinal failure is when a patient's native bowel is unable to digest and absorb  the food, electrolytes and fluids needed for normal growth and development.  Clinical presentation This often includes intractable diarrhoea, weight loss, dehydration, electrolyte imbalance, and malnutrition. ...
Article

Intestinal malrotation

Intestinal malrotation is a congenital anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis. Although some individuals live their entire life with malrotated bowel without symptoms, the abnormality does predispose to mid...
Article

Intestinal nonrotation

Intestinal nonrotation is a congenital anomaly of the intestines that results in the small bowel occupying the right side of the peritoneal cavity and the colon predominantly on the left. It is sometimes thought of as a subtype of intestinal malrotation. Epidemiology Nonrotation is estimated ...
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Intestinal transplant

Intestinal transplantation is a surgical treatment for intestinal failure. It is one of the most rarely performed transplant procedures performed, exclusively involving the transplantation of donor small bowel to a recipient, with an ileostomy formation.  Due to the high risk of complications w...
Article

Intra-abdominal calcification (neonatal)

Intra-abdominal calcification in a neonate can be caused by a number of pathologies that cause calcification within the peritoneal space or within organs. Pathology Aetiology Meconium peritonitis The commonest cause is meconium peritonitis which is the result of aseptic peritonitis secondary...
Article

Intracranial cystic lesions in the perinatal period

Intracranial cystic lesions in the perinatal period can carry a relatively wide differential which includes: Supratentorial cystic lesions cysts arachnoid cyst choroid plexus cyst connatal cyst holoprosencephaly multicystic encephalomalacia periventricular leukomalacia porencephalic cys...
Article

Intramembranous ossification

Intramembranous ossification describes the process of ossification from mesenchymal cells (stem cells) without a cartilaginous template and is involved in the healing process of fractures. The stages of intramembranous ossification osteogenesis are as follows: mesenchymal cells differentiate in...
Article

Intraventricular haemorrhage of the newborn

Intraventricular haemorrhage of the newborn is a distinct entity and considered separately from intraventricular haemorrhage (IVH) in adults. In neonates, IVH is the result of germinal matrix haemorrhage, which ruptures through the ependymal lining and into the lateral ventricles. Other causes...
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

Intussusception reduction

Intussusception reduction is a procedure performed in paediatric patients who have an ileocolic intussusception. There are several ways that reduction can be achieved radiologically: air-reduction under fluoroscopic guidance water-reduction under fluoroscopic guidance physical reduction unde...
Article

Ischiopubic synchondrosis asymmetry

Ischiopubic synchondrosis asymmetry is the characteristic enlargement of one of the ischiopubic synchondroses. While it most commonly a normal variant of the developmental process, it is sometimes thought to be syndromic (then called ischiopubic synchondrosis syndrome or van Neck-Odelberg diseas...
Article

Isomerism

Isomerism is a term which in general means 'mirror-image'. It is used in the context of heterotaxy and is of two types: left isomerism right isomerism Left isomerism Mirror image of the structures on the left side of the chest along the left-right axis of the body, i.e. patients with isomeri...
Article

Jacobsen syndrome

Jacobsen syndrome (also known as the chromosome 11q deletion syndrome) is a rare chromosomal anomaly that results from deletion of the terminal region of chromosome 11. It results in intellectual disabilities, a distinctive facial appearance and a variety of physical problems including heart def...
Article

Jarcho-Levin syndrome

The Jarcho-Levin syndrome (JLS) or spondylothoracic dysostosis is a rare autosomal recessive heterogeneous disorder which can occur to variable severity. Previously the condition spondylocostal dysostosis was also considered as part of the JLS spectrum but is now considered a distinct pathologic...
Article

Jejunal atresia

Jejunal atresia is a congenital anomaly characterised by obliteration of the lumen of the jejunum. The site of the atresia can be anywhere from the ligament of Treitz to the jejunoileal junction. There can be more than one atretic segment. This article will focus on jejunal atresia alone but be...
Article

Johanson-Blizzard syndrome

Johanson-Blizzard syndrome is a disorder of ectodermal dysplasia with a wide variability in its manifestations. It is thought to have autosomal recessive inheritance. Clinical presentation There is a wide variability in the clinical presentation, but common features are: low birth weight hyp...
Article

Joubert syndrome

Joubert anomaly, also known as vermian aplasia or molar tooth midbrain-hindbrain malformation, is an autosomal recessive disorder where there is a variable degree of cerebellar vermal agenesis.  Terminology When associated with anomalies of the kidneys, liver and/or eyes then the term Joubert ...
Article

J shaped sella

A J-shaped sella is a variant configuration of the sella turcica, where the tuberculum sellae is flattened, thus forming the straight edge of the "J". The dorsum sellae remains rounded and forms the loop of the "J". Differential diagnosis Differential diagnosis for a J-shaped sella includes 1,...
Article

Juberg-Hayward syndrome

Juberg-Hayward syndrome (JHS), also known as the oro-cranio-digital syndrome, is a rare autosomal recessive syndrome characterised by the association of the following:  growth retardation microcephaly cleft lip and palate minor vertebral and rib anomalies 4 horseshoe kidneys 4 thumb anomal...

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