Articles

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1,435 results found
Article

Congenital infiltrating lipomatosis of the face

Congenital infiltrating lipomatosis of the face is a very rare congenital, non-hereditary disease manifesting with prominent unilateral facial overgrowth and deformity. Clinical presentation Facial asymmetry is always noted at birth. Other findings on the affected side include: unilateral ske...
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Dragonfly sign

Dragonfly sign describes the appearance of the cerebellum on coronal images, which is seen secondary to cerebellar atrophy in pontocerebellar hypoplasia 1. The sign is so called as the whole cerebellum resembles the shape of a dragonfly if one imagines the vermis is the body of the insect and t...
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Galeazzi fracture-dislocation

Galeazzi fracture-dislocations consist of a fracture of the distal part of the radius with disruption of the distal radioulnar joint. A Galeazzi-equivalent fracture is a distal radial fracture with a distal ulnar physeal fracture 2. Epidemiology Galeazzi fractures are primarily encountered in ...
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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...
Article

Bilateral thalamic glioma

Bilateral thalamic gliomas are rare but characteristic low-grade astrocytomas that occur in both children and young adults. Clinical presentation Presentation may vary with age. Young children with bilateral thalamic glioma often have signs of increased intracranial pressure and movement disor...
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Cobb's collar

Cobb's collar (also known as a Moormann's ring or congenital narrowing of the bulbar urethra) 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...
Article

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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Pyloric stenosis

Hypertrophic pyloric stenosis (HPS) refers to the idiopathic thickening of gastric py­loric musculature which then results in progressive gastric outlet obstruction. Epidemiology Pyloric stenosis is relatively common, with an incidence of approximately 2-5 per 1000 births, and a male predilect...
Article

Apophysis of the proximal 5th metatarsal

The apophysis of the proximal 5th metatarsal (plural apophyses) lies laterally and is oriented longitudinally parallel to the shaft. Apophysis of the fifth metatarsal base appears on plain radiographs at age 12 years for boys and 10 years for girls. Fusion of the apophysis to the metatarsal bas...
Article

Physiologic periostitis

Physiologic periostitis describes the normal presence of smooth bilateral diaphyseal periosteal new bone formation along the humeri, femora, or tibiae of infants aged 1 to 6 months. It can be observed in both preterm and term infants. The etiology is unclear but may simply relate to rapid growth...
Article

Rhabdomyosarcoma (genitourinary tract)

Rhabdomyosarcomas of the genitourinary tract are uncommon tumors occurring in pelvic organs. It is a disease nearly exclusive to the pediatric population.  For a general discussion of this type of tumor, please refer to the article on rhabdomyosarcomas. Epidemiology The peak incidence of tumo...
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Erb palsy

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

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

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 etiology. Clinical presentation Most children are asymptomatic at birth and are diagnosed after screening. In untreated congeni...
Article

Morquio syndrome

Morquio syndrome (in older literature it is sometimes called Morquio-Brailsford syndrome) is an autosomal recessive mucopolysaccharidosis (MPS) type IV. Epidemiology Incidence estimated at ~1:40,000. Clinical presentation Many cases present at ~2 years of age and have normal intelligence. Cl...
Article

Pelvic osteotomy

Pelvic osteotomy relates to an orthopedic treatment for developmental acetabular dysplasia of the hip. The main purpose of pelvic osteotomy is the prevention of early degenerative changes by stabilization of the hip and redistribution of joint loading. It is obtained by surgical reshaping/remod...
Article

Prostaglandin-induced cortical hyperostosis in infants with cyanotic congenital heart disease

Prostaglandin-induced cortical hyperostosis in infants is a well-known side-effect from the treatment of cyanotic congenital heart diseases. Prostaglandin-E1 (injectable form), and prostaglandin-E2 (oral form) are E-type prostaglandins (PGE), that are commonly used in newborns with cyanotic cong...
Article

Multisystem inflammatory syndrome in children

Multisystem inflammatory syndrome in children (MIS-C) or pediatric inflammatory multisystem syndrome (PIMS) is an emerging pediatric disease occurring after prior SARS-CoV-2 infection and is therefore strongly associated with the ongoing COVID-19 pandemic.  Terminology The World Health Organiz...
Article

Muscle-eye-brain disease

Muscle-eye-brain disease, a part of the spectrum of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A3; MDDGA3), is a congenital muscular dystrophy with associated progressive eye and brain abnormalities. Clinical presentation There is severe intellectual di...
Article

Gastroschisis

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

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