Articles

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1,429 results found
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Sinding-Larsen-Johansson disease

Sinding-Larsen-Johansson disease, 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 close...
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Diastematomyelia

Diastematomyelia, also known as a split cord malformation, refers to a type of spinal dysraphism (spina bifida occulta) characterized by a longitudinal split in the spinal cord.  Terminology Although traditionally, it has been distinguished from diplomyelia (in which the cord is duplicated rat...
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Imperforate hymen

Imperforate hymen is a congenital condition in which the hymen lacks a normal opening. Epidemiology It happens in 0.1% of the female population, usually an isolated finding.  Clinical presentation Primary amenorrhea with cyclic lower abdominal pain during menarche age. An imperforate hymen c...
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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 to congenital toxoplasmosis for a broad discussion on epidemiology and pathology.  Radiographic features...
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Transposition of the great arteries

Transposition of the great arteries (TGA), also known as transposition of the great vessels (TGV), is the most common cyanotic congenital cardiac anomaly presenting during the newborn period, with cyanosis in the first 24 hours of life. It occurs as a result of ventriculoarterial discordance, w...
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Langerhans cell histiocytosis (skeletal manifestations)

The skeleton is the most commonly involved organ system in Langerhans cell histiocytosis (LCH) and is by far the most common location for single-lesion LCH, often referred to as eosinophilic granuloma (EG) (the terms are used interchangeably in this article). For a general discussion of this dis...
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Transient intussusception

Transient or uncomplicated intussusception is known to occur in adults and children and can be considered physiological. Given the condition's transient nature, it is probably underdiagnosed. The main factors distinguishing transient from intussusceptions requiring surgical intervention are abse...
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Sturge-Weber syndrome

Sturge-Weber syndrome, also known as encephalotrigeminal angiomatosis or encephalofacial angiomatosis, is a phakomatosis characterized by facial port-wine birthmark (capillary malformation) and pial angiomas.  It is part of a wide spectrum of possible phenotypes included in the cerebrofacial ar...
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Scoliosis

Scoliosis (plural: scolioses) is defined as an abnormal lateral curvature of the spine. It is quite common in young individuals and is often idiopathic and asymptomatic. In some cases, however, it is the result of underlying structural or neurological abnormalities. Terminology Early onset sco...
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Babygram

Babygram is a radiograph that captures the newborn's entire body, including limbs. Some authors refer to chest and abdominal radiograph of the baby as "thoracoabdominal babygram" 4. Indications Babygram is done in post-mortem studies of the stillborn foetus or after the termination of pregnan...
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Immune thrombocytopenia

Immune thrombocytopenia (ITP), historically known as idiopathic thrombocytopenic purpura, is an autoimmune disorder characterized by a decrease in platelet numbers to <100 x 109/L. In most cases it is a primary condition, i.e. no underlying cause is found. Terminology Historically, immune thro...
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Encephalocele

Encephalocele, also known as meningoencephalocele, is a form of neural tube defect and a type of cephalocele where brain tissue and overlying meninges herniate out through a defect in the cranium.  Terminology Although the terms encephalocele and meningoencephalocele are often used interchange...
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Germinal matrix hemorrhage (grading)

Grading of germinal matrix hemorrhage 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...
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Postaxial polydactyly

Postaxial polydactyly refers to polydactyly where the additional digit is on the ulnar margin of the hand, or lateral to the 5th (little) toe. Epidemiology Postaxial polydactyly is more common than preaxial polydactyly, with an estimated incidence of 1 in 3000 5. Associations trisomy 13 Bar...
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Polydactyly

Polydactyly (less commonly called hyperdactyly) refers to the situation where there are more than the usual number of digits (five) in a hand or foot. It can be broadly classified as: preaxial polydactyly: extra digit(s) towards the thumb/hallux (radially) postaxial polydactyly: extra digit(s)...
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Axenfeld-Rieger syndrome

Axenfeld-Rieger syndrome is a rare spectrum of disorders with an autosomal dominant pattern of inheritance 6. The syndrome incorporates all of 5: Axenfeld anomaly: posterior embryotoxon and peripheral irido-corneal adhesions Rieger anomaly: findings of Axenfeld anomaly along with corectopia (m...
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Trichorhinophalangeal syndrome type II

Trichorhinophalangeal syndrome type II, also known as Langer-Giedion syndrome, is an extremely rare autosomal dominant genetic disorder. Pathology The effects are seen mainly on the skeletal system and primarily involves hair: "tricho-" nose: "rhino-" digits of the hands and feet: "-phalang...
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Coxa vara

Coxa vara describes a hip deformity where the femoral neck-shaft angle is decreased, usually defined as <120°. Pathology It can be congenital or acquired. The common mechanism in congenital cases is a failure of the medial growth of the physeal plate 3.   Etiology The etiology of coxa vara w...
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Cyanotic congenital heart disease

A number of entities can present as cyanotic congenital heart disease. These can be divided into those with increased (pulmonary plethora) or decreased pulmonary vascularity: increased pulmonary vascularity total anomalous pulmonary venous return (TAPVR) (types I and II) transposition of the ...
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Congenital pulmonary stenosis

Congenital pulmonary stenosis refers to congenital narrowing of the right ventricular outflow tract, pulmonary valve, or pulmonary artery. See pulmonary valve stenosis for a general discussion about this valvulopathy. Epidemiology The estimated incidence is 1 in 2000 births. Associations Co...

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