Articles

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1,432 results found
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Truncus arteriosus

Truncus arteriosus is a cyanotic congenital heart anomaly in which a single trunk supplies both the pulmonary and systemic circulation, instead of a separate aorta and a pulmonary trunk. It is usually classified as a conotruncal anomaly. It accounts for up to 2% of congenital cardiac anomalies ...
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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 COACH syndrome is considered extremely rare. Associations The association with infantile polycystic kidney diseas...
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Wolffian duct

The Wolffian duct (also known as the mesonephric duct) is one of the paired embryogenic tubules that drain the primitive kidney (mesonephros) to the cloaca. It also gives off a lateral branch forming the ureteric bud. In both the male and the female, the Wolffian duct develops into the trigone o...
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Poliomyelitis-like syndrome

Poliomyelitis-like syndrome, or polio-like paralysis, is an uncommon form of myelitis that presents similar to polio, due to non-poliovirus pathologies which selectively involve the anterior horn cells of the spinal cord and result in an anterior horn syndrome. Although it usually has an infecti...
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Infectious mononucleosis

Infectious mononucleosis (also known as glandular fever) is the term for infection with Epstein-Barr virus (EBV). The infection classically occurs in teenagers and young adults, hence its popular name kissing disease. It is usually a clinical diagnosis, with confirmation by serum testing, but ma...
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Rhabdomyosarcoma (orbit)

Rhabdomyosarcomas of the orbit account for approximately 10-20% of all rhabdomyosarcomas and are usually found in children.  Epidemiology As with other locations, rhabdomyosarcomas in the orbit are overrepresented in males, and in Caucasians. They typically occur in children below the age of 1...
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Spondyloepiphyseal dysplasia

Spondyloepiphyseal dysplasia is a form of skeletal dysplasia mainly involving the spine and proximal epiphyses.  Clinical presentation short neck short trunk with protruding abdomen  normal IQ spine atlantoaxial instability craniovertebral junction stenosis platyspondyly scoliosis exag...
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Toddler fracture

A toddler fracture is a minimally displaced or undisplaced spiral fracture, usually of the tibia, typically encountered in toddlers. It is a potentially difficult diagnosis to establish on account of both the symptoms and imaging findings being subtle. Terminology The term has sometimes also b...
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Non-ossifying fibroma

Non-ossifying fibromas (NOF) are benign and generally self-limiting osteoclastic giant cell-rich bone tumors typically found in the metaphyses of long bones. They are classified as osteoclastic giant cell-rich bone tumors 1,2. NOFs account for the 'N' in the popular mnemonic for lucent bone les...
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Wimberger sign

The Wimberger sign, also called Wimberger corner sign, refers to localized bilateral metaphyseal destruction of the medial proximal tibias. It is a pathognomonic sign of congenital syphilis. The term must not be mistaken for the Wimberger ring sign seen in scurvy, as both entities are often con...
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Radial head dislocation

Radial head dislocation occurs when the radial head is displaced from its normal articulation with the ulna and the humerus. The dislocation may be acquired or congenital (see the separate article on congenital radial head dislocation). Additionally, radial head dislocation should be distinguis...
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Embryonal tumor with multilayered rosettes

Embryonal tumors with multilayered rosettes (ETMR) are rare small round blue cell tumor of the central nervous system. They are one of the most aggressive brain tumors usually encountered in children and are WHO grade 4 tumors.  Terminology Previously embryonal tumors with multilayered rosette...
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Atypical callosal dysgenesis

Atypical callosal dysgenesis is a term used to denote an unusual pattern of dysgenesis of the corpus callosum. The development of the corpus callosum occurs between the 12th and 16-20th weeks of gestation 2-3. It begins with the genu and then continues posteriorly along the body to the splenium...
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Encephalomyosynangiosis

Encephalomyosynangiosis (EMS) is an indirect revascularization surgery for moyamoya disease as a way to bypass an occluded internal carotid artery and circle of Willis.  It entails dissecting strips of vascularized temporalis muscle and subjacent galeal flap and, following craniotomy and openin...
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In utero syphilis infection

In utero syphilis infection, or congenital syphilis, results from transplacental transmission of the maternal infection from the spirochete Treponema pallidum, subspecies pallidum.  For a general discussion, and for links to other system specific manifestations, please refer to the article on s...
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Cystic lung lesions (pediatric)

Cystic lesions in pediatric patients are usually congenital lesions and, as such, can be seen antenatally and following delivery. Pathology Etiology Congenital These congenital lesions are predominantly covered by the overarching diagnosis of bronchopulmonary foregut malformation. This is a ...
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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 characterized by megalencephaly, severe mental and neurological deficits, and blindness.  Epidemiology Canavan...
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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

Flat floor of fourth ventricle sign

The flat floor of fourth ventricle sign is useful in detecting a pontine mass and is a sign of mass effect. The normal floor of the fourth ventricle (remember that the floor is anterior) normally slopes upwards towards the midline, with the facial colliculi visible on either side.  It is a non-...
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Mendosal suture

The mendosal suture, also known as the accessory occipital suture, is a normal calvarial suture. Gross anatomy The suture extends through the occipital bone, lying superior to the occipitomastoid suture and inferomedial to the lambdoid suture. It closes in utero or in the first few days of lif...

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