Items tagged “congenital”
25 results found
Article
Intestinal malrotation
Intestinal malrotation is a congenital anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis.
In incomplete rotation, the midgut does not rotate more than 180°, thus cephalad (prearterial or proximal) portion of the midgu...
Article
Atrial septal defect
Atrial septal defect (ASD) is the second most common congenital heart defect after ventricular septal defect (VSD). Diagnosis is often delayed until adulthood when complications arise such as atrial arrhythmias or pulmonary hypertension. The radiologist may be the first to suggest the diagnosis ...
Article
Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy (HCM) is a type of cardiomyopathy defined by left ventricular hypertrophy which cannot otherwise be explained by another cardiac or systemic disease. It is the leading cause of sudden cardiac death in infants, teenagers, and young adults.
Terminology
Although hypert...
Article
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...
Article
Cardiac rhabdomyoma
Cardiac rhabdomyomas are a type of benign myocardial tumor and are considered the most common fetal cardiac tumor. They have a strong association with tuberous sclerosis.
Epidemiology
Cardiac rhabdomyomas are often multiple and can represent up to 90% of cardiac tumors in the pediatric populat...
Article
18q deletion syndrome
18q deletion syndrome is a rare chromosomal anomaly where there is a deletion of part of the long arm of chromosome 18. Associated symptoms and findings vary widely, as do their severity. Characteristic clinical features include short stature, intellectual disability, hypotonia, facial, and dist...
Article
Aberrant left pulmonary artery
Aberrant left pulmonary artery, also known as pulmonary sling, represents an anatomical variant characterized by the left pulmonary artery arising from the right pulmonary artery and passing above the right main bronchus and in between the trachea and esophagus to reach the left lung. It may lea...
Article
Bladder exstrophy
Bladder exstrophy (also known as ectopia vesicae) refers to a herniation of the urinary bladder through an anterior abdominal wall defect. The severity of these defects is widely variable.
Epidemiology
The estimated incidence of bladder exstrophy is 1:10,000-50,000 live births 3,5. There is a ...
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
Ectopic ureter
An ectopic ureter is a congenital renal anomaly that occurs as a result of abnormal caudal migration of the ureteral bud during its insertion to the urinary bladder. Normally the ureter drains via the internal ureteral orifice at the trigone of the urinary bladder.
In females, the most common ...
Article
Foregut duplication cyst
Foregut duplication cysts are a type of congenital duplication cyst. They are sometimes classified under bronchopulmonary foregut malformations.
Entities classified as foregut duplication cysts include:
bronchogenic cysts
neurenteric cysts
other enteric cysts
esophageal duplication...
Article
Polyorchidism
Polyorchidism, also known as supernumerary testes, refers to the presence of more than two testes and is a very rare congenital anomaly. The supernumerary testis can be usually located inside the scrotum (75% of the patients) or less commonly in the inguinal canal, the retroperitoneum, or the ab...
Article
Congenital radial head dislocation
Congenital radial head dislocation is the most common congenital elbow abnormality. It can occur in isolation, or more commonly may be associated with other conditions or syndromes.
Epidemiology
Overall, congenital radial head dislocation is rare 2.
Clinical presentation
Congenital radial he...
Article
Sphenoid wing dysplasia
Sphenoid wing dysplasia is a characteristic but not pathognomonic feature of neurofibromatosis type 1 (NF1), it can also occur in isolated cases.
Epidemiology
Sphenoid wing dysplasia is seen in 5-10% of cases of NF1 and is one of the diagnostic criteria of NF1 5,6.
Clinical presentation
Puls...
Article
Pulmonary atresia with intact interventricular septum
Pulmonary atresia with intact interventricular septum (PA-IVS) is a subtype of pulmonary atresia that presents as cyanotic congenital heart disease.
Pathology
PA-IVS is the combination of obstruction of the pulmonary outflow tract from pulmonary valve atresia without a ventricular septal defe...
Article
Mullerianosis
Mullerianosis is a rare type of choristoma, in which normal Mullerian-derived structures (endometrium, endosalpinx, and endocervix) are ectopically located in another organ (e.g. the bladder) through a developmental anomaly. Mullerianosis differs from endometriosis in that at least two types of ...
Article
Congenital cataract
Congenital cataracts are a major cause of blindness with early detection the most important factor in reducing impact on future vision.
Epidemiology
Incidence is ~3 per 100,000 in the United Kingdom 1. Although the incidence tends to be higher in areas with increased rates of congenital infec...
Article
Congenital pseudoarthrosis of the clavicle
Congenital pseudoarthrosis of the clavicle is a rare condition, which typically presents as an isolated anatomical variant.
Clinical presentation
Usually presents as a midclavicular swelling in the neonate or young child 1.
Pathology
Congenital pseudoarthrosis of the clavicle is more commo...
Article
Hemihyperplasia
Hemihyperplasia, also known as hemihypertrophy, is asymmetry in size between the right and left of the body, more than can be attributed to normal variation.
Terminology
Hemihyperplasia is more scientifically correct than hemihypertrophy as the cells are hyperplastic rather than hypertrophied ...
Article
Norrie disease
Norrie disease is a rare X-linked inherited cause of congenital bilateral blindness. It can present with a retinal mass (pseudoglioma) and cataracts. It is associated with developmental delay and hearing loss.