Articles
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More than 200 results
Article
Galloway-Mowat syndrome
Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by nephrotic syndrome and central nervous system (CNS) abnormalities, namely microcephaly.
Epidemiology
Galloway-Mowat syndrome is considered extremely rare. Approximately 40 cases have been reported worldwide...
Article
Pulmonary hypoplasia
Pulmonary hypoplasia refers to underdevelopment of one or both lungs. This can be rapidly fatal at birth or mild, escaping detection for decades. It is most often secondary to congenital abnormalities that either restrict intrathoracic space or alter pulmonary fluid dynamics.
Epidemiology
Pulm...
Article
Arterial switch procedure
The arterial switch procedure, also known as the Jatene switch procedure, is an intervention designed to correct the D-transposition of the great arteries (D-TGA) at the level of the aorta and main pulmonary artery. It is generally preferred over atrial switch procedures for simple D-TGA due to ...
Article
Proteus syndrome
Proteus syndrome is a rare congenital, multisystemic, hamartomatous condition characterized by asymmetrical overgrowth of almost any part of the body and a broad spectrum of manifestations. It can affect tissue from any germinal layer.
Clinical presentation
Affected patients usually appear nor...
Article
Medulloepithelioma of the brain
Medulloepitheliomas of the brain are rare, highly malignant, primitive embryonic tumors derived from the primitive medullary plate and neural tube. These tumors, once considered distinct entities, are now thought to be a pattern of embryonal tumors with multilayered rosettes. Please refer to tha...
Article
Heterotaxy syndrome
Heterotaxy syndromes refer to abnormal left/right distribution of thoracic and abdominal organs that is neither situs solitus nor situs inversus. They are frequently associated with congenital heart disease and other visceral abnormalities.
Terminology
Isomerism implies mirrored organs, and ca...
Article
Gastric volvulus
Gastric volvulus is a specific type of volvulus that occurs when the stomach twists on its mesentery. It should be at least 180° and cause bowel obstruction to be called gastric volvulus. Merely gastric rotation on its root is not considered gastric volvulus.
Epidemiology
Organo-axial volvulus...
Article
Congenital pouch colon
Congenital pouch colons are an anomaly in which there is cystic dilation of a shortened colon. They can either partially or totally replace the colon.
Pathology
Associations
Congenital pouch colons can be associated with vaginal or vestibular fistulas and less frequently with other genitourin...
Article
Center edge angle of Wiberg
The center-edge angle (CEA) of Wiberg is a measurement in the pelvis which is the angle formed by Perkin line and a line from the center of the femoral head to the lateral edge of the acetabulum. It can be used to assess for conditions such as developmental dysplasia of the hip although only con...
Article
Megalencephaly-capillary malformation syndrome
Megalencephaly-capillary malformation (MCAP) syndrome, also known as macrocephaly-capillary malformation syndrome, is a rare and well described genetic disorder caused by somatic mutations in the PIK3CA gene on chromosome 3q26 and characterized by early brain overgrowth and body morphogenesis an...
Article
Bronchial atresia
Bronchial atresia is a developmental anomaly characterized by focal obliteration of the proximal segment of a bronchus associated with hyperinflation of the distal lung.
On imaging, it commonly presents as a proximal focal tubular-shaped opacity radiating from the hilum associated with a dista...
Article
CLOVES syndrome
CLOVES syndrome is an acronym denoting a rare condition consisting of:
Congenital Lipomatous Overgrowth
Vascular malformations
Epidermal nevi
Skeletal/Scoliosis/Spinal anomalies
Terminology
Although first described as CLOVE the term "CLOVES" syndrome, with the "S" emphasizing the skeletal ...
Article
Pallister-Hall syndrome
Pallister-Hall syndrome displays a wide range of severity and is characterized by hypothalamic hamartomas seen as a mass at the floor of the third ventricle, posterior to the optic chiasm 3,4.
Epidemiology
Pallister-Hall syndrome is rare and the exact prevalence is unknown. Patients with posta...
Article
Diffuse brainstem glioma (historical)
Diffuse brainstem gliomas or diffuse intrinsic pontine gliomas was a term used to describe infiltrating astrocytomas arising in the brainstem, usually in children. It is no longer recognized as a distinct entity, removed from the 2016 update to the WHO classification of CNS tumors replaced by a ...
Article
Convolutional markings
Convolutional markings are normal impressions of the gyri on the inner table of the skull. They appear during the period of rapid brain development, typically between 3 and 7 years of age 4. They are seen predominantly posteriorly.
Anterior involvement of the skull is referred to as a copper b...
Article
Conotruncal cardiac anomalies
Conotruncal heart defects are a group of congenital cardiovascular anomalies involving the outflow tracts and great vessels. They are a leading cause of symptomatic cyanotic cardiac disease diagnosed in utero.
Epidemiology
They may account for up to a fifth of all congenital cardiac anomalies ...
Article
Bowing fracture
Bowing fractures are incomplete fractures of tubular long bones in pediatric patients (especially the radius and ulna) that often require no intervention and heal with remodeling.
Epidemiology
Bowing fractures are almost exclusively found in children. However, there have been several case repo...
Article
Cephalohematoma
Cephalohematomas are traumatic subperiosteal hematomas of the skull that are usually caused by birth injury. They are bound between the periosteum and cranium, and therefore cannot cross sutures. Being bound by a suture line distinguishes them from subgaleal hematoma, which can cross sutures.
E...
Article
Interatrial septal aneurysm
Interatrial septal aneurysm or atrial septal aneurysm (ASA) is defined as an abnormal protrusion of the interatrial septum. The exact length of the protrusion that defines an interatrial septal aneurysm varies in the literature, ranging from >11 mm to >15 mm beyond normal excursion in adults 4,5...
Article
Tectal glioma
Tectal gliomas fall under the grouping of childhood brainstem gliomas and unlike the other tumors in that group they are typically low grade astrocytomas with good prognosis.
Epidemiology
Tectal plate gliomas are encountered in children and adolescents 4. A male predilection has sometimes bee...