Search results for “also”
832 results found
Article
Pelviureteric junction obstruction
Pelviureteric junction (PUJ) obstruction/stenosis, also known as ureteropelvic junction (UPJ) obstruction/stenosis, can be one of the causes of obstructive uropathy. It can be congenital or acquired with a congenital pelviureteric junction obstruction being one of the commonest causes of antenat...
Article
Chiari I malformation
Chiari I malformation is the most common variant of the Chiari malformations and is characterized by a caudal descent of the cerebellar tonsils (and brainstem in its subtype, Chiari 1.5) through the foramen magnum. Symptoms are proportional to the degree of descent. MRI is the imaging modality o...
Article
Urethral duplication
Urethral duplication is a rare condition in which either a part of the entire urethra is duplicated. It usually occurs in the sagittal plane, and the more dorsal copy is usually the duplication.
Pathology
Urethral duplications may occur due to a variety of developmental anomalies. In females, ...
Article
Bochdalek hernia
Bochdalek hernias , also known as pleuroperitoneal hernias, (alternative plural: herniae) are the commonest type of congenital diaphragmatic hernia. They occur posteriorly and are due to a defect in the posterior attachment of the diaphragm when there is a failure of pleuroperitoneal membrane cl...
Article
X-linked adrenoleukodystrophy
X-linked adrenoleukodystrophy is an inherited metabolic peroxisomal disorder and one of the more common leukodystrophies in both children and adults. It is characterized by lack of oxidation of very long chain fatty acids (VLCFAs) that results in severe inflammatory demyelination typically of th...
Article
Holt-Oram syndrome
Holt-Oram syndrome (HOS), also known as heart-hand syndrome, is an autosomal dominant syndrome that results in congenital heart defects and upper limb anomalies:
congenital heart defects
atrial septal defect (ASD) (commonest cardiac defect 4)
ventricular septal defect (VSD)
aortic coarctat...
Article
Yasargil classification of vein of Galen aneurysmal malformations
The Yasargil classification is one of the two common systems for classifying vein of Galen malformations that is currently in use at the time of writing (mid 2024).
Classification
type I: small pure cisternal fistula between the vein of Galen (voG) and either the pericallosal arteries (anteri...
Article
Lasjaunias classification of vein of Galen aneurysmal malformations
The Lasjaunias classification, at the time of writing (mid 2024), is one of the two commonly used systems for classifying vein of Galen malformations. It relies on dividing the entity into choroidal or mural types, depending on the number and origin of feeding arteries.
Classification
choroid...
Article
Kyphosis
Kyphosis (plural: kyphoses), much less commonly kyphus, is a term used to describe the sagittal curvature of the thoracic spine. Hyperkyphosis is when the kyphosis angle is above the normal range 5,7.
Pathology
Kyphosis increases with age, with a kyphosis angle of ~25° (range 20-29°) in adoles...
Article
Proximal radio-ulnar synostosis
Proximal radio-ulnar synostosis is an upper limb skeletal malformation characterized by bony fusion at the proximal aspect of the radius and ulna. Of the radio-ulnar synostoses, the proximal third is considered the most common site.
Epidemiology
Proximal radioulnar synostoses are rare occurre...
Article
Simple bone cyst
Simple bone cysts (SBC) are common benign non-neoplastic lucent bone lesions seen mainly in childhood and typically remain asymptomatic.
SBC accounts for the 'S' in the popular mnemonic for lucent bone lesions FEGNOMASHIC.
Terminology
The term unicameral bone cysts (UBC) is no longer recommen...
Article
Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a dystrophinopathy and the most common muscular dystrophy.
Epidemiology
Duchenne muscular dystrophy has an incidence of 1 in 3500 to 5000 males 1,2. The condition is extremely rare in females due to its inheritance pattern, as discussed below 1.
Clinical p...
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 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...
Article
Spinal muscular atrophy
Spinal muscular atrophy is a type of congenital neuromuscular disease affecting anterior horn cells of the brainstem and spinal cord.
Epidemiology
This disorder affects 1 in 6000-10000 infants 1.
Clinical presentation
Spinal muscular atrophy typically affects infants and young children, pres...
Article
Hypovitaminosis C (scurvy)
Scurvy is a condition caused by a dietary lack of vitamin C (ascorbic acid), hence is also called hypovitaminosis C, and is characterized by an increased bleeding tendency and impaired collagen synthesis resulting in osteoporosis and impaired wound healing.
Epidemiology
Scurvy in adults is rar...
Article
Cervical thymus
The cervical thymus (plural: cervical thymi) refers to an ectopic location of the thymus in the neck above the level of the brachiocephalic veins.
Clinical presentation
A cervical thymus usually presents before adolescence as a painless unilateral midline or lateral neck mass.
Pathology
Etio...
Article
Perthes disease
Perthes disease, also known as Legg-Calvé-Perthes disease, refers to idiopathic osteonecrosis of the femoral epiphysis seen in children.
Terminology
Perthes disease should not be confused with Perthes lesion of the shoulder.
Epidemiology
Perthes disease is relatively uncommon and in Western...
Article
Anal atresia
Anal atresia, or imperforate anus, refers to a spectrum of anorectal abnormalities ranging from a membranous separation to complete absence of the anus.
Epidemiology
The estimated incidence is 1 in 5000 live births.
Associations
There are frequent associations with other congenital abnormali...
Article
Crohn disease
Crohn disease, also known as regional enteritis, is an idiopathic inflammatory bowel disease characterized by widespread discontinuous gastrointestinal tract inflammation. The terminal ileum and proximal colon are most often affected. Extraintestinal disease is common.
Epidemiology
The diagnos...
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