Articles
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1,432 results found
Article
Sprengel deformity
Sprengel deformity, or congenital elevation of the scapula, is a complex deformity of the shoulder and is the most common congenital shoulder abnormality. An initial diagnosis can often be made on radiographs, but CT or MRI is often necessary to evaluate the details of the abnormality.
Epidemio...
Article
Pulmonary artery atresia
Pulmonary artery atresia (or sometimes known as pulmonary atresia) is a congenital cardiovascular anomaly in which there is complete disruption between the right ventricular outflow tract (RVOT) and the pulmonary trunk.
Epidemiology
The estimated incidence is 1 in 10,000 births.
Pathology
Th...
Article
Optic pathway glioma
Optic pathway gliomas are relatively uncommon tumors, with a variable clinical course and usually seen in the setting of neurofibromatosis type I (NF1). Histologically the majority are pilocytic astrocytomas.
They are characterized by imaging by an enlarged optic nerve seen either on CT or MRI....
Article
Classification system for malformations of cortical development
The classification system for malformations of cortical development organizes myriad conditions into one of three major underlying groups according to the main underlying mechanism:
group I: abnormal cell proliferation or apoptosis
group II: abnormal neuronal migration
group III: abnormal cor...
Article
Tubulinopathy
Tubulinopathies refer to a wide spectrum of cortical malformations that result from defects in genes encoding the tubulin protein that regulates neuronal migration during brain development.
Clinical presentation
Some series report a high prevalence of seizures during infancy which may be the i...
Article
Multicystic dysplastic kidney
Multicystic dysplastic kidney (MCDK) is a type of non-heritable pediatric cystic renal disease. It results in multiple cysts being formed in utero in the affected kidney.
Epidemiology
Unilateral incidence is estimated at 1:2500-4000. There may be a predisposition for the left kidney, a slightl...
Article
Congenital pulmonary airway malformation
Congenital pulmonary airway malformations (CPAM) are multicystic masses of segmental lung tissue with abnormal bronchial proliferation. CPAMs are considered part of the spectrum of bronchopulmonary foregut malformations.
Terminology
Until recently, they were described as congenital cystic aden...
Article
Lederer-Brill disease
Lederer-Brill disease is a transient autoimmune hemolytic anemia with very variable clinical features 1.
Epidemiology
Lederer-Brill disease is slightly more prevalent in females 1.
Clinical presentation
It usually occurs in children with a recent history of infection. Symptoms and signs incl...
Article
Blount disease
Blount disease refers to a local disturbance of growth of the medial aspect of the proximal tibial metaphysis and/or epiphysis that results in tibia vara. The condition is commonly bilateral. Somewhat confusingly, "tibia vara" has been used in the literature as a synonym for Blount disease.
Epi...
Article
SAPHO syndrome
The SAPHO syndrome is an acronym that refers to a rare syndrome that is manifested by a combined occurrence of 2:
S: synovitis
A: acne
P: pustulosis
H: hyperostosis
O: osteitis
Epidemiology
SAPHO classically tends to present in young to middle-aged adults. Presentation in the pediatric po...
Article
Cystic fibrosis
Cystic fibrosis (CF), also called mucoviscidosis, is an autosomal recessive genetic disease that affects the exocrine function of the lungs, liver, pancreas, small bowel, sweat glands, and urogenital system.
This article is a general discussion of the disease. Each organ system are discussed se...
Article
Duane syndrome
Duane syndrome, also known as Duane retraction syndrome, is a rare congenital disease characterized by non-progressive strabismus. It is caused by a variable degree of abnormal development of one or both of the abducens nerves (CN VI).
Epidemiology
It presents during childhood and it accounts ...
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
Caroli disease
Caroli disease and Caroli syndrome are congenital disorders comprising of multifocal cystic dilatation of segmental intrahepatic bile ducts. However, some series show that extrahepatic duct involvement may exist. They are also classified as a type V choledochal cyst, according to the Todani clas...
Article
Calcaneal apophysitis
Calcaneal apophysitis, also known as Sever disease, is the painful inflammation of the apophysis of the calcaneus.
Epidemiology
It typically presents in active young children and adolescents, especially those who enjoy jumping and running sports.
Associations
High plantar foot pressures are...
Article
Choroid plexus papilloma
Choroid plexus papillomas are an uncommon, benign (WHO grade 1) neuroepithelial intraventricular tumor, which can occur in both the pediatric (more common) and adult population.
On imaging, these tumors are usually identified in the fourth ventricle in adults and in the lateral ventricles in t...
Article
Frykman classification of distal radial fractures
The Frykman classification of distal radial fractures is based on the AP appearance and encompasses the eponymous entities of Colles fracture, Smith fracture, Barton fracture, chauffeur fracture. It assesses the pattern of fractures, involvement of the radioulnar joint and presence of a distal u...
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...
Article
Medulloblastoma
Medulloblastomas are the most common malignant brain tumors of childhood, most often presenting as midline masses in the roof of the 4th ventricle (at the superior medullary velum) with associated mass-effect and hydrocephalus. Treatment typically consists of surgical resection, radiation therap...
Article
Barth syndrome
Barth syndrome (BTHS), also known as 3-methylglutaconic aciduria type II, is an extremely rare X-linked multisystem disorder that is usually diagnosed in infancy.
Epidemiology
Barth syndrome has an estimated prevalence of 1 in 300,000-400,000 live births.
Clinical presentation
It is characte...
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